Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R255R
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BEST1

NM_004183.4:p.R255R

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

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_s008.xlsx › Sheet1

Screening of BEST1 Gene in a Chinese Cohort With Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy.

Tian L et al.

Investigative Ophthalmology & Visual Science, 2017

[Clinical manifestations and gene analysis in one Chinese family with Best vitelliform macular dystrophy].

Ouyang YL et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2008

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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."