Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R218G
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BEST1

NM_004183.4:p.R218G

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

Clinical Correlation Between Optical Coherence Tomography Biomarkers and Retinal Sensitivity in Best Vitelliform Macular Dystrophy.

Battaglia Parodi M et al.

Translational Vision Science & Technology, 2022

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

Retinal Vascular Impairment in Best Vitelliform Macular Dystrophy Assessed by Means of Optical Coherence Tomography Angiography.

Battaglia Parodi M et al.

American Journal of Ophthalmology, 2018

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

Katagiri S et al.

The British Journal of Ophthalmology, 2015

Near-infrared fundus autofluorescence in subclinical best vitelliform macular dystrophy.

Parodi MB et al.

American Journal of Ophthalmology, 2014

BEST1 sequence variants in Italian patients with vitelliform macular dystrophy.

Sodi A et al.

Molecular Vision, 2012

A novel mutation in the VMD2 gene in an Italian family with Best maculopathy.

Sodi A et al.

Journal Francais D'ophtalmologie, 2007

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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."