Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.E98G
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BEST1

NM_004183.4:p.E98G

Associated Papers

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

Lieviant JA et al.

European Journal of Human Genetics : Ejhg, 2025

40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1

Novel BEST1 Variant Characterization in a Large French Cohort in Light of Updated Bestrophin-1 Structure-Function Correlation.

Bitan J et al.

Investigative Ophthalmology & Visual Science, 2025

40891781 (PubMed )
Supplement: iovs-66-12-4_s009.xlsx › A._Variants_description
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