Varaico: Literature-Extracted Genetic Variants

Gene:CNKSR1
Variant:p.T282fs
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CNKSR1

NM_006314.3:p.T282fs

Associated Papers

CNKSR1 gene defect can cause syndromic autosomal recessive intellectual disability.

Kazeminasab S et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2018

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H et al.

Nature, 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."