Varaico: Literature-Extracted Genetic Variants

Gene:ALAS2
Variant:p.E569G
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ALAS2

NM_000032.5:p.E569G

Associated Papers

Isoniazid inhibits human erythroid 5-aminolevulinate synthase: Molecular mechanism and tolerance study with four X-linked protoporphyria patients.

Fratz-Berilla EJ et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

Human Erythroid 5-Aminolevulinate Synthase Mutations Associated with X-Linked Protoporphyria Disrupt the Conformational Equilibrium and Enhance Product Release.

Fratz EJ et al.

Biochemistry, 2015

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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."