Varaico: Literature-Extracted Genetic Variants

Gene:CNOT7
Variant:p.H249L
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CNOT7

NM_013354.7:p.H249L

Associated Papers

Two novel aspartoacylase gene (ASPA) missense mutations specific to Norwegian and Swedish patients with Canavan disease.

Olsen TR et al.

Journal of Medical Genetics, 2002

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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."