Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.A112A
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HMBS

NM_000190.4:p.A112A

Associated Papers

Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.

Goncharova M et al.

Clinical 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."