Varaico: Literature-Extracted Genetic Variants

Gene:NOG
Variant:p.E63D
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NOG

NM_005450.6:p.E63D

Associated Papers

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

A mutation in the heparin-binding site of noggin as a novel mechanism of proximal symphalangism and conductive hearing loss.

Masuda S et al.

Biochemical and Biophysical Research Communications, 2014

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

Growth and skeletal development in families with NOGGIN gene mutations.

Oxley CD et al.

Hormone Research, 2008

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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."