Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.G222V
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BEST1

NM_004183.4:p.G222V

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

Best Vitelliform Macular Dystrophy Natural History Study Report 1: Clinical Features and Genetic Findings.

Laich Y et al.

Ophthalmology, 2024

38278445 (PubMed )
Supplement: mmc4.pdf

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

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_s002.pdf

Clinical and Mutation Analysis of Patients with Best Vitelliform Macular Dystrophy or Autosomal Recessive Bestrophinopathy in Chinese Population.

Gao T et al.

Biomed Research International, 2018

[VMD2 and its role in Best's disease and other retinopathies].

Stöhr H et al.

Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005

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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."