Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C1174G
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CRB1

NM_201253.3:p.C1174G

Associated Papers

Human CRB1 and CRB2 form homo- and heteromeric protein complexes in the retina.

Stehle IF et al.

Life Science Alliance, 2024

Classification of domains in predicted structures of the human proteome.

Schaeffer RD et al.

Proceedings of the National Academy of Sciences of the United States of America, 2023

36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2

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

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

Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture.

Stone EM

American Journal of Ophthalmology, 2007

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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."