Varaico: Literature-Extracted Genetic Variants

Gene:CNKSR1
Variant:p.G168D
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CNKSR1

NM_006314.3:p.G168D

Associated Papers

Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.

Citirak G et al.

Neuromuscular Disorders : Nmd, 2014

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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."