Varaico: Literature-Extracted Genetic Variants

Gene:NOG
Variant:p.I220delins
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NOG

NM_005450.6:p.I220delins

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

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

Takano K et al.

Human Genome Variation, 2016

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

Ishino T et al.

European Journal of Medical Genetics, 2015

A comprehensive review of reported heritable noggin-associated syndromes and proposed clinical utility of one broadly inclusive diagnostic term: NOG-related-symphalangism spectrum disorder (NOG-SSD).

Potti TA et al.

Human Mutation, 2011

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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."