Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.A97insFs
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CAT

NM_001752.4:p.A97insFs

Associated Papers

M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

Pollak A et al.

American Journal of Medical Genetics. Part A, 2007

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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."