Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.Q153H
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HMBS

NM_000190.4:p.Q153H

Associated Papers

International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyrias.

Chen B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."