Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.F161S
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CAT

NM_001752.4:p.F161S

Associated Papers

Gap-junction channels dysfunction in deafness and hearing loss.

Martínez AD et al.

Antioxidants & Redox Signaling, 2009

MLYCD mutation analysis: evidence for protein mistargeting as a cause of MLYCD deficiency.

Wightman PJ et al.

Human Mutation, 2003

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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."