Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.F181S
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ALAS2

NM_000032.5:p.F181S

Associated Papers

Enzymatic defect in "X-linked" sideroblastic anemia: molecular evidence for erythroid delta-aminolevulinate synthase deficiency.

Cotter PD et al.

Proceedings of the National Academy of Sciences of the United States of America, 1992

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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."