TET2 rs1548483 SNP Associating with Susceptibility to Molecularly Annotated Polycythemia Vera and Primary Myelofibrosis.
Journal Of Personalized Medicine
Lighezan, Diana L DL; Bojan, Anca S AS; Iancu, Mihaela M; Pop, Raluca M RM; Gligor-Popa, Ștefana Ș; Tripon, Florin F; Cosma, Adriana S AS; Tomuleasa, Ciprian C; Dima, Delia D; Zdrenghea, Mihnea M; Fetica, Bogdan B; Ioniță, Ioana I; Gaál, Ildikó O IO; Vișan, Simona S; Mirea, Andreea-Manuela AM; Popp, Radu A RA; Florea, Mira M; Araniciu, Cătălin C; Petrescu, Lucian L; Pop, Ioan V IV; Bănescu, Claudia C; Trifa, Adrian P AP
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: TET2: 4140T>A; His1380Gln
A TET2 rs3733609 C/T genotype is associated with predisposition to the myeloproliferative neoplasms harboring JAK2(V617F) and confers a proliferative potential on erythroid lineages.
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP