A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly (Q28118296)

4 January 2017

title

A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly (English)

1 reference

4 January 2017

0 references

Ganeshwaran H. Mochida

1 reference

4 January 2017

Muhammad Mahajnah

1 reference

4 January 2017

Anthony D. Hill

1 reference

4 January 2017

Lina Basel-Vanagaite

1 reference

4 January 2017

Danielle Gleason

1 reference

4 January 2017

R. Sean Hill

1 reference

4 January 2017

Adria Bodell

1 reference

4 January 2017

Moira Crosier

1 reference

4 January 2017

Rachel Straussberg

1 reference

4 January 2017

Christopher A. Walsh

1 reference

4 January 2017

publication date

1 December 2009

1 reference

American Journal of Human Genetics

4 January 2017

published in

1 reference

4 January 2017

1 reference

4 January 2017

1 reference

4 January 2017

page(s)

897–902

1 reference

The DNA sequence of the human X chromosome

4 January 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

Large-scale identification and characterization of human genes that activate NF-kappaB and MAPK signaling pathways

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

The CC2D1A, a member of a new gene family with C2 domains, is involved in autosomal recessive non-syndromic mental retardation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

Mutants in trs120 disrupt traffic from the early endosome to the late Golgi

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

NIBP, a novel NIK and IKK(beta)-binding protein that enhances NF-(kappa)B activation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2790576

10.1016/J.AJHG.2009.10.027

20 March 2017

Identifiers

DOI

0 references

PMC publication ID

2790576

0 references

1 reference