Varaico: Literature-Extracted Genetic Variants

Gene:NOG
Variant:p.C230Y
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NOG

NM_005450.6:p.C230Y

Associated Papers

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.

Zhang Z et al.

Molecular Genetics & Genomic Medicine, 2022

Multiple synostoses syndrome: Clinical report and retrospective analysis.

Pan Z et al.

American Journal of Medical Genetics. Part A, 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

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

Further delineation of facioaudiosymphalangism syndrome: Description of a family with a novel NOG mutation and without hearing loss.

Bayat A et al.

American Journal of Medical Genetics. Part A, 2016

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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."