Associated Papers
The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation.
Jové-Solavera D et al.
Scientific Reports, 2025
40195342 (PubMed )
Supplement: 41598_2025_95590_MOESM1_ESM.pdf
A synonymous coding variant that alters ALAS2 splicing and causes X-linked sideroblastic anemia.
Oakley JH et al.
Pediatric Blood & Cancer, 2022
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