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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALAS2

Variant:p.Q548H

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ALAS2

NM_000032.5:p.Q548H

hg38:chrX:55009300 C>G

Associated Papers

Molecular expression, characterization and mechanism of ALAS2 gain-of-function mutants.

Tchaikovskii V et al.

Molecular Medicine (cambridge, Mass.), 2019

30678654 (PubMed )

Supplement: 10020_2019_70_MOESM2_ESM.doc

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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."