Varaico: Literature-Extracted Genetic Variants

Gene:CTTNBP2
Variant:p.H918Y
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CTTNBP2

NM_033427.3:p.H918Y

Associated Papers

Dendritic Spine in Autism Genetics: Whole-Exome Sequencing Identifying De Novo Variant of CTTNBP2 in a Quad Family Affected by Autism Spectrum Disorder.

Xie Y et al.

Children (basel, Switzerland), 2022

36670631 (PubMed )
Supplement: children-10-00080-s001.zip › children-2044403-supplementary › children-2044403-Supplementary › Supplementary_Tables-R1.xlsx › STS10

Prioritized High-Confidence Risk Genes for Intellectual Disability Reveal Molecular Convergence During Brain Development.

Liu Z et al.

Frontiers in Genetics, 2018

30279698 (PubMed )
Supplement: Table_2.XLS › Sheet1

Exome Pool-Seq in neurodevelopmental disorders.

Popp B et al.

European Journal of Human Genetics : Ejhg, 2017

29158550 (PubMed )
Supplement: 41431_2017_22_MOESM3_ESM.xlsx › LancetAnalysis

Recurrent de novo mutations implicate novel genes underlying simplex autism risk.

O'Roak BJ et al.

Nature Communications, 2014

25418537 (PubMed )
Supplement: NIHMS636245-supplement-2.xlsx › Sheet_1
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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."