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A GWAS sequence variant for platelet volume marks an alternative DNM3 promoter in megakaryocytes near a MEIS1 binding site.
Blood. 2012 Dec 6;120(24):4859-68. doi: 10.1182/blood-2012-01-401893. Epub 2012 Sep 12.
Blood. 2012.
PMID: 22972982
Free PMC article.
Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Albers CA, Paul DS, Schulze H, Freson K, Stephens JC, Smethurst PA, Jolley JD, Cvejic A, Kostadima M, Bertone P, Breuning MH, Debili N, Deloukas P, Favier R, Fiedler J, Hobbs CM, Huang N, Hurles ME, Kiddle G, Krapels I, Nurden P, Ruivenkamp CA, Sambrook JG, Smith K, Stemple DL, Strauss G, Thys C, van Geet C, Newbury-Ecob R, Ouwehand WH, Ghevaert C.
Albers CA, et al.
Nat Genet. 2012 Feb 26;44(4):435-9, S1-2. doi: 10.1038/ng.1083.
Nat Genet. 2012.
PMID: 22366785
Free PMC article.
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