Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome (Q44394416)

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scientific article published on May 1, 2011

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English	Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome	scientific article published on May 1, 2011

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scholarly article

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Europe PubMed Central

PubMed publication ID

2 December 2017

Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome (English)

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Europe PubMed Central

PubMed publication ID

2 December 2017

germline mutation

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A20735442

22 June 2024

author name string

K. J. Champion

1

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22 June 2024

C. Bunag

2

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22 June 2024

A. L. Estep

3

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22 June 2024

J. R. Jones

4

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22 June 2024

C. H. Bolt

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22 June 2024

R. C. Rogers

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22 June 2024

K. A. Rauen

7

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22 June 2024

D. B. Everman

8

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22 June 2024

language of work or name

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National Center for Biotechnology Information

PubMed publication ID

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=20735442

22 June 2024

publication date

1 May 2011

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2 December 2017

full work available at URL

https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1399-0004.2010.01495.x

1 reference

10.1111/J.1399-0004.2010.01495.X

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01495.X

22 June 2024

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.2010.01495.x/fullpdf

1 reference

10.1111/J.1399-0004.2010.01495.X

https://api.crossref.org/works/10.1111/J.1399-0004.2010.01495.X

22 June 2024

Clinical Genetics

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Europe PubMed Central

PubMed publication ID

2 December 2017

79

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Europe PubMed Central

PubMed publication ID

2 December 2017

5

1 reference

Europe PubMed Central

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2 December 2017

468-474

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

The RAF proteins take centre stage

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Mutations of the BRAF gene in human cancer

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

The cardiofaciocutaneous syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Neurological complications of cardio-facio-cutaneous syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Predicting deleterious amino acid substitutions

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Accounting for human polymorphisms predicted to affect protein function

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

PMUT: a web-based tool for the annotation of pathological mutations on proteins.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Differential regulation of B-raf isoforms by phosphorylation and autoinhibitory mechanisms

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Incidence of BRAF oncogene mutation and clinical relevance for primary cutaneous melanomas

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

BRAF mutation in endometrial carcinoma and hyperplasia: correlation with KRAS and p53 mutations and mismatch repair protein expression.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Polyclonality of BRAF mutations in acquired melanocytic nevi

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Expression of endogenous oncogenic V600EB-raf induces proliferation and developmental defects in mice and transformation of primary fibroblasts

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Acute lymphoblastic leukaemia in a patient with cardiofaciocutaneous syndrome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Leukemia in Cardio-facio-cutaneous (CFC) syndrome: a patient with a germline mutation in BRAF proto-oncogene.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1399-0004.2010.01495.X

21 January 2018

Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: transmission through four generations.

1 reference

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21 January 2018

Hepatoblastoma and heart transplantation in a patient with cardio-facio-cutaneous syndrome

1 reference

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21 January 2018

Identifiers

10.1111/J.1399-0004.2010.01495.X

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

2 December 2017

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