Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.R560_G561Splc
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COL2A1

NM_001844.5:p.R560_G561Splc

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

Ophthalmic and molecular genetic findings in Kniest dysplasia.

Sergouniotis PI et al.

Eye (london, England), 2015

The influence of pre-mRNA splicing on phenotypic modification in Stickler's syndrome and other type II collagenopathies.

Richards AJ et al.

Eye (london, England), 2008

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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."