Varaico: Literature-Extracted Genetic Variants

Gene:NCKAP5L
Variant:p.G11D
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NCKAP5L

NM_001037806.4:p.G11D

Associated Papers

Altered Neocortical Gene Expression, Brain Overgrowth and Functional Over-Connectivity in Chd8 Haploinsufficient Mice.

Suetterlin P et al.

Cerebral Cortex (new York, N.y. : 1991), 2018

29668850 (PubMed )
Supplement: bhy058suppl_1.zip › TableS2-S4.xlsx › SFARI_gene-score

Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.

Marco EJ et al.

Bmc Medical Genomics, 2018

29801487 (PubMed )
Supplement: 12920_2018_362_MOESM2_ESM.xls › SFARI_ASD_7_9_medProb

Genetic diagnosis of autism spectrum disorders: the opportunity and challenge in the genomics era.

Jiang YH et al.

Critical Reviews in Clinical Laboratory Sciences, 2014

Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.

Chahrour MH et al.

Plos Genetics, 2012

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."