Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.N40I
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CAT

NM_001752.4:p.N40I

Associated Papers

Hypoxia and intra-complex genetic suppressors rescue complex I mutants by a shared mechanism.

Meisel JD et al.

Cell, 2024

A targeted Coch missense mutation: a knock-in mouse model for DFNA9 late-onset hearing loss and vestibular dysfunction.

Robertson NG et al.

Human Molecular Genetics, 2008

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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."