Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.

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http://www.wikidata.org/entity/Q35049670
Regulation of small GTPases by GEFs, GAPs, and GDIsRab and Arf proteins in genetic diseasesBRAG2/GEP100/IQSec1 interacts with clathrin and regulates α5β1 integrin endocytosis through activation of ADP ribosylation factor 5 (Arf5).Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.A 380-kb Duplication in 7p22.3 Encompassing the LFNG Gene in a Boy with Asperger Syndrome.NotI microarrays: novel epigenetic markers for early detection and prognosis of high grade serous ovarian cancer.Expanding the phenotype of IQSEC2 mutations: truncating mutations in severe intellectual disability.Emerging major synaptic signaling pathways involved in intellectual disability.The molecular and phenotypic spectrum of IQSEC2-related epilepsy.Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey.Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.
P2860

Subtle functional defects in the Arf-specific guanine nucleotide exchange factor IQSEC2 cause non-syndromic X-linked intellectual disability.

Item
http://www.wikidata.org/entity/Q35049670
description
2010 nî lūn-bûn
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2010 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
Subtle functional defects in t ...... inked intellectual disability.
@ast
Subtle functional defects in t ...... inked intellectual disability.
@en
type
label
Subtle functional defects in t ...... inked intellectual disability.
@ast
Subtle functional defects in t ...... inked intellectual disability.
@en
prefLabel
Subtle functional defects in t ...... inked intellectual disability.
@ast
Subtle functional defects in t ...... inked intellectual disability.
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
Subtle functional defects in t ...... inked intellectual disability.
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932