Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.V202L
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HMBS

NM_000190.4:p.V202L

Associated Papers

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.

Fu Y et al.

Frontiers in Pharmacology, 2019

Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.

Kauppinen R et al.

Clinical Chemistry, 2002

New mutations of the hydroxymethylbilane synthase gene in German patients with acute intermittent porphyria.

Gross U et al.

Molecular and Cellular Probes, 1999

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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."