Varaico: Literature-Extracted Genetic Variants

Gene:ALAS1
Variant:p.I58F
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ALAS1

NM_000688.6:p.I58F

Associated Papers

The molecular biology and pyridoxine responsiveness of X-linked sideroblastic anaemia.

May A et al.

Haematologica, 1998

Late-onset X-linked sideroblastic anemia. Missense mutations in the erythroid delta-aminolevulinate synthase (ALAS2) gene in two pyridoxine-responsive patients initially diagnosed with acquired refractory anemia and ringed sideroblasts.

Cotter PD et al.

The Journal of Clinical Investigation, 1995

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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."