Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.Q213Splc
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ALAS2

NM_000032.5:p.Q213Splc

Associated Papers

Loss-of-function ferrochelatase and gain-of-function erythroid-specific 5-aminolevulinate synthase mutations causing erythropoietic protoporphyria and x-linked protoporphyria in North American patients reveal novel mutations and a high prevalence of X-linked protoporphyria.

Balwani M et al.

Molecular Medicine (cambridge, Mass.), 2013

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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."