Varaico: Literature-Extracted Genetic Variants

Gene:ANO2
Variant:p.S500F
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ANO2

NM_001364791.2:p.S500F

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

Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Otaify GA et al.

Bone, 2018

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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."