Varaico: Literature-Extracted Genetic Variants

Gene:NOG
Variant:p.C184F
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NOG

NM_005450.6:p.C184F

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

Identification of a novel mutation of NOG in family with proximal symphalangism and early genetic counseling.

Ma C et al.

Bmc Medical Genetics, 2019

A novel nonsense mutation in the NOG gene causes familial NOG-related symphalangism spectrum disorder.

Takano K et al.

Human Genome Variation, 2016

A Novel Missense Mutation of NOG Interferes With the Dimerization of NOG and Causes Proximal Symphalangism Syndrome in a Chinese Family.

Pang X et al.

The Annals of Otology, Rhinology, and Laryngology, 2015

Novel NOG mutation in Japanese patients with stapes ankylosis with broad thumbs and toes.

Ishino T et al.

European Journal of Medical Genetics, 2015

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."