Varaico: Literature-Extracted Genetic Variants

Gene:ABCC5
Variant:p.S501Y
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ABCC5

NM_005688.4:p.S501Y

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

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 762.297

Integrated genomic study of quadruple-WT GIST (KIT/PDGFRA/SDH/RAS pathway wild-type GIST).

Nannini M et al.

Bmc Cancer, 2014

25239601 (PubMed )
Supplement: 12885_2014_4877_MOESM1_ESM.xlsx › Foglio1
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