Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.R764S
Back to variants list

CRB1

NM_201253.3:p.R764S

Associated Papers

Elevated Plasma Complement Factors in CRB1-Associated Inherited Retinal Dystrophies.

Moekotte L et al.

Investigative Ophthalmology & Visual Science, 2025

39982393 (PubMed )
Supplement: iovs-66-2-55_s001.xlsx › Supplementary_Table_1

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Heutinck PAT et al.

Investigative Ophthalmology & Visual Science, 2024

39189993 (PubMed )
Supplement: iovs-65-10-40_s001.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."