PMID: 25807286

Gudbjartsson DF, Helgason H, Gudjonsson SA, Zink F, Oddson A, Gylfason A, Besenbacher S, Magnusson G, Halldorsson BV, Hjartarson E, Sigurdsson GT, Stacey SN, Frigge ML, Holm H, Saemundsdottir J, Helgadottir HT, Johannsdottir H, Sigfusson G, Thorgeirsson G, Sverrisson JT, Gretarsdottir S, Walters GB, Rafnar T, Thjodleifsson B, Bjornsson ES, Olafsson S, Thorarinsdottir H, Steingrimsdottir T, Gudmundsdottir TS, Theodors A, Jonasson JG, Sigurdsson A, Bjornsdottir G, Jonsson JJ, Thorarensen O, Ludvigsson P, Gudb
Large-scale whole-genome sequencing of the Icelandic population.
Nat Genet. 2015 May;47(5):435-44. doi: 10.1038/ng.3247. Epub 2015 Mar 25., [PubMed]
Sentences
No. Mutations Sentence Comment
224 ABCB4 p.Gly622Glu
X
ABCB4 p.Gly622Glu 25807286:224:117
status: NEW
view ABCB4 p.Gly622Glu details
 ABCB4 and liver diseases and function Our GWAS of gallstone disease (n = 8,258) led us to a missense SNP, encoding p.Gly622Glu, and a frameshift insertion, encoding p.Leu445Glyfs*22, in ABCB4 (Supplementary Table 12). Login to comment 225 ABCB4 p.Gly622Glu
X
ABCB4 p.Gly622Glu 25807286:225:117
status: NEW
view ABCB4 p.Gly622Glu details
 ABCB4 and liver diseases and function Our GWAS of gallstone disease (n = 8,258) led us to a missense SNP, encoding p.Gly622Glu, and a frameshift insertion, encoding p.Leu445Glyfs*22, in ABCB4 (Supplementary Table 12). Login to comment