Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.P105delFs
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HMBS

NM_000190.4:p.P105delFs

Associated Papers

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.

Fu Y et al.

Frontiers in Pharmacology, 2019

31572191 (PubMed )
Supplement: Table_1.xlsx › Data_collection_

Molecular study of the hydroxymethylbilane synthase gene (HMBS) among Polish patients with acute intermittent porphyria.

Gregor A et al.

Human Mutation, 2002

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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."