Varaico: Literature-Extracted Genetic Variants

Gene:CNKSR2
Variant:p.G435Splc
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CNKSR2

NM_014927.5:p.G435Splc

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-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

35599849 (PubMed )
Supplement: mmc1.xlsx › Sheet1
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