Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R47_F48delFs
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BEST1

NM_004183.4:p.R47_F48delFs

Associated Papers

Comprehensive Genetic Analysis Unraveled the Missing Heritability and a Founder Variant of BEST1 in a Chinese Cohort With Autosomal Recessive Bestrophinopathy.

Shi J et al.

Investigative Ophthalmology & Visual Science, 2023

37747403 (PubMed )
Supplement: iovs-64-12-37_s009.xlsx › Sheet1
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