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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRB1

Variant:p.L1045delFs

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CRB1

NM_201253.3:p.L1045delFs

hg38:chr1:197434996 CT>C

Associated Papers

Novel CRB1 pathogenic variant in Chuuk families with Leber congenital amaurosis.

Albakri A et al.

American Journal of Medical Genetics. Part A, 2023

36595661 (PubMed )

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