Varaico: Literature-Extracted Genetic Variants

Gene:CNKSR2
Variant:p.A748P
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CNKSR2

NM_001330772.2:p.A748P

Associated Papers

Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG).

Ghasemi MR et al.

American Journal of Medical Genetics. Part A, 2025

Genome Sequencing Identifies 13 Novel Candidate Risk Genes for Autism Spectrum Disorder in a Qatari Cohort.

Ben-Mahmoud A et al.

International Journal of Molecular Sciences, 2024

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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."