Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations (Q57493090)

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Language	Label	Description	Also known as
English	Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations	article

Statements

instance of

scholarly article

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case report

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title

Limb Girdle Muscular Dystrophy due to Digenic Inheritance of and Mutations (English)

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main subject

muscular dystrophy

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based on heuristic

inferred from title

author name string

Leema Reddy Peddareddygari

series ordinal

1

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Kinsi Oberoi

series ordinal

2

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Raji P Grewal

series ordinal

3

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language of work or name

English

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published in

Case reports in neurology

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volume

10

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issue

3

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page(s)

272-278

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cites work

DIDA: A curated and annotated digenic diseases database.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6180278

retrieved

2 November 2018

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6180278

retrieved

2 November 2018

MutationTaster2: mutation prediction for the deep-sequencing age.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6180278

retrieved

2 November 2018

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

1 reference

stated in

PubMed Central

reference URL

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retrieved

2 November 2018

Digenic inheritance in medical genetics

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6180278

retrieved

2 November 2018

A novel desmin mutation leading to autosomal recessive limb-girdle muscular dystrophy: distinct histopathological outcomes compared with desminopathies.

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6180278

retrieved

2 November 2018

Limb-Girdle Muscular Dystrophy Type 2A Resulting From Homozygous G2338C Transversion Mutation in the Calpain-3 Gene

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6180278

retrieved

2 November 2018

A method and server for predicting damaging missense mutations

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6180278

retrieved

2 November 2018

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

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6180278

retrieved

2 November 2018

STRING: a database of predicted functional associations between proteins

1 reference

stated in

PubMed Central

reference URL

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=6180278

retrieved

2 November 2018

Identifiers

DOI

10.1159/000492664

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PMC publication ID

6180278

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PubMed publication ID

30323756

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