Varaico: Literature-Extracted Genetic Variants

Gene:BEST1
Variant:p.G199A
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BEST1

NM_004183.4:p.G199A

Associated Papers

Dual Ca2+-dependent gates in human Bestrophin1 underlie disease-causing mechanisms of gain-of-function mutations.

Ji C et al.

Communications Biology, 2019

31263784 (PubMed )
Supplement: 42003_2019_433_MOESM4_ESM.xlsx › Oligo_sequences
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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."