Varaico: Literature-Extracted Genetic Variants

Gene:ASXL1
Variant:p.R394H
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ASXL1

NM_015338.6:p.R394H

Associated Papers

Feature-based classification of amino acid substitutions outside conserved functional protein domains.

Gemovic B et al.

Thescientificworldjournal, 2013

24348198 (PubMed )
Supplement: 948617.f1.pdf

MITO-FIND: A study in 390 patients to determine a diagnostic strategy for mitochondrial disease.

Kerr M et al.

Molecular Genetics and Metabolism, 0

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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."