Varaico: Literature-Extracted Genetic Variants

Gene:CRB1
Variant:p.C85Y
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CRB1

NM_201253.3:p.C85Y

Associated Papers

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases

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

Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.

Cong PK et al.

Nature Communications, 2022

35618720 (PubMed )
Supplement: 41467_2022_30526_MOESM5_ESM.xlsx › Data_2
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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."