Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.R141C
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BEST1

NM_004183.4:p.R141C

Associated Papers

Autosomal Recessive Bestrophinopathy Is Not Associated With the Loss of Bestrophin-1 Anion Channel Function in a Patient With a Novel BEST1 Mutation.

Johnson AA et al.

Investigative Ophthalmology & Visual Science, 2015

The anion-selective pore of the bestrophins, a family of chloride channels associated with retinal degeneration.

Qu Z et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2006

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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."