Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.Y506delFs
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ALAS2

NM_000032.5:p.Y506delFs

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
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."