Varaico: Literature-Extracted Genetic Variants

Gene:ABCC5
Variant:p.N642S
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ABCC5

NM_005688.4:p.N642S

Associated Papers

Functional Testing of Human Disease Missense Variants in Caenorhabditis elegans by Targeting COQ2 Variants.

Lee GY et al.

Kidney International Reports, 2025

41141493 (PubMed )
Supplement: mmc1.pdf

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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