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SMIM1 underlies the Vel blood group and influences red blood cell traits.
Cvejic A, Haer-Wigman L, Stephens JC, Kostadima M, Smethurst PA, Frontini M, van den Akker E, Bertone P, Bielczyk-Maczyńska E, Farrow S, Fehrmann RS, Gray A, de Haas M, Haver VG, Jordan G, Karjalainen J, Kerstens HH, Kiddle G, Lloyd-Jones H, Needs M, Poole J, Soussan AA, Rendon A, Rieneck K, Sambrook JG, Schepers H, Silljé HHW, Sipos B, Swinkels D, Tamuri AU, Verweij N, Watkins NA, Westra HJ, Stemple D, Franke L, Soranzo N, Stunnenberg HG, Goldman N, van der Harst P, van der Schoot CE, Ouwehand WH, Albers CA. Cvejic A, et al. Nat Genet. 2013 May;45(5):542-545. doi: 10.1038/ng.2603. Epub 2013 Apr 7. Nat Genet. 2013. PMID: 23563608 Free PMC article.
Impact of genetic variation in the SMIM1 gene on Vel expression levels.
Haer-Wigman L, Stegmann TC, Solati S, Ait Soussan A, Beckers E, van der Harst P, van Hulst-Sundermeijer M, Ligthart P, van Rhenen D, Schepers H, de Haas M, van der Schoot CE. Haer-Wigman L, et al. Transfusion. 2015 Jun;55(6 Pt 2):1457-66. doi: 10.1111/trf.13014. Epub 2015 Feb 3. Transfusion. 2015. PMID: 25647324
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