Varaico: Literature-Extracted Genetic Variants

Gene:BEST4
Variant:p.A243V
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BEST4

NM_153274.3:p.A243V

Associated Papers

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

Querques G et al.

Molecular Vision, 2009

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.

Boon CJ et al.

Progress in Retinal and Eye Research, 2009

The best disease-linked Cl- channel hBest1 regulates Ca V 1 (L-type) Ca2+ channels via src-homology-binding domains.

Yu K et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2008

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

Hartzell HC et al.

Physiological Reviews, 2008

Chloride channel activity of bestrophin mutants associated with mild or late-onset macular degeneration.

Yu K et al.

Investigative Ophthalmology & Visual Science, 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."