Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.S1006Y
Back to variants list

CRB1

NM_201253.3:p.S1006Y

Associated Papers

A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review.

Duan W et al.

Bmc Medical Genomics, 2022

Identification of CRB1 mutations in two Chinese consanguineous families exhibiting autosomal recessive retinitis pigmentosa.

Guo X et al.

Molecular Medicine Reports, 2019

Detection of CRB1 mutations in families with retinal dystrophy through phenotype-oriented mutational screening.

Li S et al.

International Journal of Molecular Medicine, 2014

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."