Novel exomic rare variants associated with venous thrombosis.
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ABSTRACT:
SUBMITTER: Deguchi H
PROVIDER: S-EPMC7732677 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Publications
Novel exomic rare variants associated with venous thrombosis.
Deguchi Hiroshi H Shukla Meenal M Hayat Mohammed M Torkamani Ali A Elias Darlene J DJ Griffin John H JH
British journal of haematology 20200330 5
Exomic rare variant polymorphisms (c. 300 000) were analysed in the Scripps Venous Thrombosis (VTE) registry (subjects aged <55 years). Besides coagulation factor V (F5) single nucleotide polymorphisms (SNPs), family with sequence similarity 134, member B (FAM134B; rs78314670, Arg127Cys) and myosin heavy chain 8 (MYH8; rs111567318, Glu1838Ala) SNPs were associated with recurrent VTE (n = 34 cases) (false discovery rate-adjusted P < 0·05). FAM134B (rs78314670) was associated with low plasma level ...[more]
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