Varaico: Literature-Extracted Genetic Variants

Gene:ANO6
Variant:p.S513F
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ANO6

NM_001025356.3:p.S513F

Associated Papers

TMEM16E/ANO5 mutations related to bone dysplasia or muscular dystrophy cause opposite effects on lipid scrambling.

Di Zanni E et al.

Human Mutation, 2020

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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."