Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.V275F
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BEST1

NM_004183.4:p.V275F

Associated Papers

Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina.

Schlottmann PG et al.

Npj Genomic Medicine, 2023

Molecular physiology of bestrophins: multifunctional membrane proteins linked to best disease and other retinopathies.

Hartzell HC et al.

Physiological Reviews, 2008

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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."