Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.T4A
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BEST1

NM_004183.4:p.T4A

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

Atypical Foveal Hypoplasia in Best Disease.

Moret E et al.

Journal of Personalized Medicine, 2023

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

Unilateral BEST1-Associated Retinopathy.

Arora R et al.

American Journal of Ophthalmology, 2016

Multimodal analysis of the progression of Best vitelliform macular dystrophy.

Querques G et al.

Molecular Vision, 2014

The spectrum of subclinical Best vitelliform macular dystrophy in subjects with mutations in BEST1 gene.

Querques G et al.

Investigative Ophthalmology & Visual Science, 2011

Functional and clinical data of Best vitelliform macular dystrophy patients with mutations in the BEST1 gene.

Querques G et al.

Molecular Vision, 2009

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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."