Varaico: Literature-Extracted Genetic Variants

Gene:COL2A1
Variant:p.L295L
Back to variants list

COL2A1

NM_001844.5:p.L295L

Associated Papers

FAMILIAL EXUDATIVE VITREOTINOPATHY-LIKE FEATURES IN STICKLER TYPE IV ASSOCIATED WITH NOVEL VARIANTS IN COL9A1.

Alsubaie HF et al.

Retinal Cases & Brief Reports, 2023

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."