Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C1181insFs
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CRB1

NM_201253.3:p.C1181insFs

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

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

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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