Article

A Sardinian founder mutation in <i>GP1BB</i> that impacts thrombocytopenia

2020-07-08

Abstract excerpt

To investigate the genetic regulation of platelet (PLT) levels we carried out a whole-genome association analysis in 6,528 Sardinians from the general population of the Lanusei valley. We found 6 variants significantly influencing PLT levels, including a novel rare missense mutation (p.Pro27Ser) in the GP1BB protein that is associated with PLT reduction (P=1.17×10 −16 ). This mutation is rare in the SardiNIA popul...

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Literature Corpus work: e761b5c9-8d4a-5163-b7c8-259ba7b719b6
DOI: 10.1101/2020.07.06.20143263

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