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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:BEST1

Variant:p.R92L

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BEST1

NM_004183.4:p.R92L

hg38:chr11:61955745 G>T

Associated Papers

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 )

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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."