Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.M1V
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COL2A1

NM_001844.5:p.M1V

Associated Papers

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

Zhang B et al.

Clinical Genetics, 2020

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

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

Richards AJ et al.

Human Mutation, 2010

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