Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.P1166fs
Back to variants list

COL2A1

NM_001844.5:p.P1166fs

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."