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Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.

Pilar L MagoulasOleg A ShchelochkovMatthew N BainbridgeShay Ben-ShacharSvetlana YatsenkoLorraine PotockiRichard Alan LewisCharles SearbyAndrea N MarcoglieseM Tarek ElghetanyGladys ZapataPaula P HernándezManasi GadkariDerek EinhausDonna M MuznyRichard A GibbsAlison A BertuchDaryl A ScottSilvia CorveraLuis Miguel Franco
Published in: Blood (2018)
Keyphrases
  • intellectual disability
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