Varaico: Literature-Extracted Genetic Variants

Gene:ATP6V1C2
Variant:p.K283E
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ATP6V1C2

NM_001039362.2:p.K283E

Associated Papers

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism.

Scholl UI et al.

Nature Genetics, 2013

23913001 (PubMed )
Supplement: NIHMS491411-supplement-1.pdf
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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."