Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.G282D
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COL2A1

NM_001844.5:p.G282D

Associated Papers

Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.

Wang DD et al.

Bmc Medical Genetics, 2020

32039712 (PubMed )
Supplement: 12881_2020_963_MOESM1_ESM.xlsx › Sheet1

HydPred: a novel method for the identification of protein hydroxylation sites that reveals new insights into human inherited disease.

Li S et al.

Molecular Biosystems, 2016

26661679 (PubMed )
Supplement: supp_c5mb00681c3.pdf

Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1.

Richards AJ et al.

Human Mutation, 2010

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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."