Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.Q581H
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ALAS2

NM_000032.5:p.Q581H

Associated Papers

Case report: A novel 11-bp deletion in exon 11 causing a frameshift in the C-terminal of the ALAS2 gene leading to X-linked sideroblastic anemia-a family study.

Al Kindi S et al.

Frontiers in Medicine, 2024

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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."