Varaico: Literature-Extracted Genetic Variants

Gene:RNASE1
Variant:p.M58L
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RNASE1

NM_002933.5:p.M58L

Associated Papers

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."