Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.C114insFs
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HMBS

NM_000190.4:p.C114insFs

Associated Papers

Molecular Analysis of 55 Spanish Patients with Acute Intermittent Porphyria.

Morán-Jiménez MJ et al.

Genes, 2020

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_

Genetic and biochemical characterization of 16 acute intermittent porphyria cases with a high prevalence of the R173W mutation.

To-Figueras J et al.

Journal of Inherited Metabolic Disease, 2006

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

Kauppinen R et al.

Clinical Chemistry, 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."