Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.L295delFs
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COL2A1

NM_001844.5:p.L295delFs

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

Stickler syndrome: clinical characteristics and diagnostic criteria.

Rose PS et al.

American Journal of Medical Genetics. Part A, 2005

The Stickler syndrome: genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1.

Liberfarb RM et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0

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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."