Gain-of-function SAMD9L mutations cause a syndrome of cytopenia, immunodeficiency, MDS, and neurological symptoms

Tesi B, Davidsson J, Voss M, Rahikkala E, Holmes TD, Chiang SCC, Komulainen-Ebrahim J, Gorcenco S, Rundberg Nilsson A, Ripperger T, Kokkonen H, Bryder D, Fioretos T, Henter JI, Möttönen M, Niinimäki R, Nilsson L, Pronk CJ, Puschmann A, Qian H, Uusimaa J, Moilanen J, Tedgård U, Cammenga J, Bryceson YT

Blood 129 (16) 2266-2279 [2017-04-20; online 2017-02-15]

Clinical Genomics Stockholm [Service]

NGI Uppsala (SNP&SEQ Technology Platform) [Service]

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DOI 10.1182/blood-2016-10-743302

Crossref 10.1182/blood-2016-10-743302