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A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.

Jamie Heather OakleyDean R CampagnaLiang SunShira RockowitzPiotr SlizJeanne BoudreauxGary M WoodsMark Daniel Fleming
Published in: Pediatric blood & cancer (2021)
Keyphrases
  • iron deficiency
  • chronic kidney disease