Missense variants in ALAS2 gene in five patients
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DOI: 10.1111/ijlh.12902
Abstract: Sideroblastic anemias (SAs) are a heterozygous group of disorders characterized by the presence of ring sideroblasts in the bone marrow. Congenital sideroblastic anemias are syndromic and nonsyndromic and caused by pathogenic variants in genes involved… read more here.
Keywords: variants alas2; missense variants; alas2 gene; five patients ... See more keywords