Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.S141N
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HMBS

NM_000190.4:p.S141N

Associated Papers

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.

Fu Y et al.

Frontiers in Pharmacology, 2019

31572191 (PubMed )
Supplement: Table_3.xlsx › Sheet1

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria.

Lenglet H et al.

Human Molecular Genetics, 2018

A new insight into PMM2 mutations in the French population.

Le Bizec C et al.

Human Mutation, 2005

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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."