Varaico: Literature-Extracted Genetic Variants

Gene:MPV17
Variant:p.G102delFs
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MPV17

NM_002437.5:p.G102delFs

Associated Papers

Identification of an unknown frameshift variant of NOG in a Han Chinese family with proximal symphalangism.

Yuan ZZ et al.

Bioscience Reports, 2020

Mutations in the NOG gene are commonly found in congenital stapes ankylosis with symphalangism, but not in otosclerosis.

Usami S et al.

Clinical Genetics, 2012

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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."