Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V147F
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BEST1

NM_004183.4:p.V147F

Associated Papers

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.

Laich Y et al.

Ophthalmology, 2024

38278445 (PubMed )
Supplement: mmc4.pdf

Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy.

Karali M et al.

Scientific Reports, 2022

36460718 (PubMed )
Supplement: 41598_2022_24636_MOESM2_ESM.xlsx › Supplementary_Table_S1
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