Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R47L
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BEST1

NM_004183.4:p.R47L

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

Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up.

Zhang L et al.

Frontiers in Genetics, 2022

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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."