Varaico: Literature-Extracted Genetic Variants

Gene:NOG
Variant:p.L46P
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NOG

NM_005450.6:p.L46P

Associated Papers

Genetic and clinical phenotypic analysis of familial stapes sclerosis caused by an NOG mutation.

Yu R et al.

Bmc Medical Genomics, 2020

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

Yuan ZZ et al.

Bioscience Reports, 2020

Identification of a New Mutation (L46P) in the Human NOG Gene in an Italian Patient with Symphalangism Syndrome.

Athanasakis E et al.

Molecular Syndromology, 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."