Varaico: Literature-Extracted Genetic Variants

Gene:NOG
Variant:p.G92E
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NOG

NM_005450.6:p.G92E

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

Functional analysis of alleged NOGGIN mutation G92E disproves its pathogenic relevance.

Zimmer J et al.

Plos One, 2012

Genetic abnormalities in fibrodysplasia ossificans progressiva.

Miao J et al.

Genes & Genetic Systems, 2012

Mutations of the noggin (NOG) and of the activin A type I receptor (ACVR1) genes in a series of twenty-seven French fibrodysplasia ossificans progressiva (FOP) patients.

Lucotte G et al.

Genetic Counseling (geneva, Switzerland), 2009

Recent advances in the study of genes involved in non-syndromic premature ovarian failure.

Laissue P et al.

Molecular and Cellular Endocrinology, 2008

Mutations in the NOG gene are not a common cause of nonsyndromic premature ovarian failure.

Laissue P et al.

Clinical Endocrinology, 2007

Evaluation of BMP4 and its specific inhibitor NOG as candidates in human neural tube defects (NTDs).

Felder B et al.

European Journal of Human Genetics : Ejhg, 2002

Identification of three novel mutations of the noggin gene in patients with fibrodysplasia ossificans progressiva.

Sémonin O et al.

American Journal of Medical Genetics, 2001

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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."