Varaico: Literature-Extracted Genetic Variants

Gene:CATSPER4
Variant:p.Q271Q
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CATSPER4

NM_198137.2:p.Q271Q

Associated Papers

Mutation of SLC9A1, encoding the major Na⁺/H⁺ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome.

Guissart C et al.

Human Molecular Genetics, 2015

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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."