Varaico: Literature-Extracted Genetic Variants

Gene:GGCX
Variant:p.R498R
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GGCX

NM_000821.7:p.R498R

Associated Papers

uAUG creating variants in the 5'UTR of ENG causing Hereditary Hemorrhagic Telangiectasia.

Soukarieh O et al.

Npj Genomic Medicine, 2023

37848456 (PubMed )
Supplement: 41525_2023_378_MOESM3_ESM.xlsx › Carrier_of_ENG_c.-68GA

Pharmacogenetic Variation in Over 100 Genes in Patients Receiving Acenocumarol.

Gonzalez-Covarrubias V et al.

Frontiers in Pharmacology, 2017

29218011 (PubMed )
Supplement: Table1.XLSX › ST1_targetgenes
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