Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.I232_P233insT
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BEST1

NM_004183.4:p.I232_P233insT

Associated Papers

Impaired Bestrophin Channel Activity in an iPSC-RPE Model of Best Vitelliform Macular Dystrophy (BVMD) from an Early Onset Patient Carrying the P77S Dominant Mutation.

Navinés-Ferrer A et al.

International Journal of Molecular Sciences, 2022

Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathy.

Gao FJ et al.

The British Journal of Ophthalmology, 2020

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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."