Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.Q1013*
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CRB1

NM_201253.3:p.Q1013*

Associated Papers

CRB1-Associated Retinal Dystrophies: Genetics, Clinical Characteristics, and Natural History.

Daich Varela M et al.

American Journal of Ophthalmology, 2023

36099972 (PubMed )
Supplement: mmc4.pdf

Molecular findings from 537 individuals with inherited retinal disease.

Ellingford JM et al.

Journal of Medical Genetics, 2016

27208204 (PubMed )
Supplement: jmedgenet-2016-103837supp_tables.pdf

CRB1 mutations in inherited retinal dystrophies.

Bujakowska K et al.

Human Mutation, 2012

Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1.

Henderson RH et al.

The British Journal of Ophthalmology, 2011

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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."