Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.Y225fs
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BEST1

NM_004183.4:p.Y225fs

Associated Papers

Autosomal recessive bestrophinopathy associated with compound heterozygous variants in the BEST1 gene.

Hemptinne C et al.

Ophthalmic Genetics, 2023

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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."