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

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scientific journal article

Language	Label	Description	Also known as
English	A truncating mutation of TRAPPC9 is associated with autosomal-recessive intellectual disability and postnatal microcephaly	scientific journal article

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scholarly article

1 reference

PubMed publication ID

4 January 2017

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

1 reference

PubMed publication ID

4 January 2017

author name string

Ganeshwaran H. Mochida

1

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4 January 2017

Muhammad Mahajnah

2

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Anthony D. Hill

3

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4 January 2017

Lina Basel-Vanagaite

4

1 reference

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4 January 2017

Danielle Gleason

5

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4 January 2017

R. Sean Hill

6

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4 January 2017

Adria Bodell

7

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Moira Crosier

8

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Rachel Straussberg

9

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Christopher A. Walsh

10

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4 January 2017

publication date

1 December 2009

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American Journal of Human Genetics

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4 January 2017

85

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6

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897–902

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PubMed publication ID

4 January 2017

The DNA sequence of the human X chromosome

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

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Oligosaccharyltransferase-subunit mutations in nonsyndromic mental retardation

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

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

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Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation

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

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

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

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

1 reference

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PMC publication ID

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PubMed publication ID

1 reference

PubMed publication ID

4 January 2017

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