Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.S7N
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BEST1

NM_004183.4:p.S7N

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

Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.

Beryozkin A et al.

Investigative Ophthalmology & Visual Science, 2024

38411968 (PubMed )
Supplement: iovs-65-2-39_s001.pdf

Mutational spectrum in a Chinese cohort with congenital cataracts.

Liu HL et al.

Molecular Genetics & Genomic Medicine, 2023

37337769 (PubMed )
Supplement: MGG3-11-e2196-s001.xlsx › Sheet2

Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.

Pfister TA et al.

Investigative Ophthalmology & Visual Science, 2021

34015078 (PubMed )
Supplement: iovs-62-6-22_s001.pdf

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

Mutation analysis of BEST1 in Japanese patients with Best's vitelliform macular dystrophy.

Katagiri S et al.

The British Journal of Ophthalmology, 2015

[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."