Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.I230T
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BEST1

NM_004183.4:p.I230T

Associated Papers

Characterization of functional and structural impairments in best vitelliform macular dystrophy using visual electrophysiology and optical coherence tomography in pediatric and adult patients.

Polosa A et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2025

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

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

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

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."