Varaico: Literature-Extracted Genetic Variants

Gene:ANO5
Variant:p.C356W
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ANO5

NM_213599.3:p.C356W

Associated Papers

ANO5 p.I616F variant drives florid cemento-osseous dysplasia by disrupting transmembrane domain structure.

Zhang L et al.

Bmc Oral Health, 2025

Familial gigantiform cementoma with recurrent ANO5 p.Cys356Tyr mutations: Clinicopathological and genetic study with literature review.

Zhou Z et al.

Molecular Genetics & Genomic Medicine, 2024

Identification of a novel ANO5 missense mutation in a Chinese family with familial florid osseous dysplasia.

Lv M et al.

Journal of Human Genetics, 2019

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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."