Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.S49L
Back to variants list

CRB1

NM_201253.3:p.S49L

Associated Papers

Associations Between Fundus Types and Clinical Manifestations in Patients with RDH12 Gene Mutations.

Jin J et al.

Brain Topography, 2022

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.

Sallum JMF et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2020

Hypomorphic variants in inherited retinal and ocular diseases: A review of the literature with clinical cases.

Thuma TBT et al.

Survey of Ophthalmology, 0

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."