Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.L313P
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ALAS2

NM_000032.5:p.L313P

Associated Papers

Structural basis for dysregulation of aminolevulinic acid synthase in human disease.

Taylor JL et al.

The Journal of Biological Chemistry, 2022

Severe iron overload in a woman with homeostatic iron regulator (HFE) and a novel 5'-aminolevulinate synthase 2 (ALAS2) mutations: interactions of multiple genetic determinants.

de Gennes C et al.

British Journal of Haematology, 2022

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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."