Varaico: Literature-Extracted Genetic Variants

Gene:NOG
Variant:p.P187A
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NOG

NM_005450.6:p.P187A

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

Identification of two novel mutations in the NOG gene associated with congenital stapes ankylosis and symphalangism.

Ganaha A et al.

Journal of Human Genetics, 2015

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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."