Varaico: Literature-Extracted Genetic Variants

Gene:CNTN4
Variant:p.G221D
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CNTN4

NM_175607.3:p.G221D

Associated Papers

Low-level brain somatic mutations in exonic regions are collectively implicated in autism with germline mutations in autism risk genes.

Kim IB et al.

Experimental & Molecular Medicine, 2024

39085355 (PubMed )
Supplement: 12276_2024_1284_MOESM1_ESM.pdf

The autism risk gene CNTN4 modulates dendritic spine formation.

Zhao R et al.

Human Molecular Genetics, 2021

A current view on contactin-4, -5, and -6: Implications in neurodevelopmental disorders.

Oguro-Ando A et al.

Molecular and Cellular Neurosciences, 2017

Contactin 4 as an autism susceptibility locus.

Cottrell CE et al.

Autism Research : Official Journal of the International Society for Autism Research, 2011

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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."