Varaico: Literature-Extracted Genetic Variants

Gene:NOG
Variant:p.R204Q
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NOG

NM_005450.6:p.R204Q

Associated Papers

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

Ma C et al.

Bmc Medical Genetics, 2019

The p.(Pro170Leu) variant in NOG impairs noggin secretion and causes autosomal dominant congenital conductive hearing loss due to stapes ankylosis.

Shu Y et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2019

Identification of a Novel NOG Missense Mutation in a Chinese Family With Symphalangism and Tarsal Coalitions.

Xiong J et al.

Frontiers in Genetics, 2019

Tarsal-carpal coalition syndrome: Report of a novel missense mutation in NOG gene and phenotypic delineation.

Das Bhowmik A et al.

American Journal of Medical Genetics. Part A, 2018

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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."