Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G582S
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COL2A1

NM_001844.5:p.G582S

Associated Papers

A novel mutation of COL2A1 in a large Chinese family with avascular necrosis of the femoral head.

Zhang Z et al.

Bmc Medical Genomics, 2021

Identification of an IGF1 mutation (c.15+3G>A) in familial osteonecrosis of the femoral head: A case report.

Xu Q et al.

Medicine, 2021

Integrated analysis of COL2A1 variant data and classification of type II collagenopathies.

Zhang B et al.

Clinical Genetics, 2020

Identification of a novel COL2A1 mutation (c.1744G>A) in a Japanese family: a case report.

Kishiya M et al.

Journal of Medical Case Reports, 2014

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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."