Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.K157insFs
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HMBS

NM_000190.4:p.K157insFs

Associated Papers

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria.

Merati M et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2025

40485347 (PubMed )
Supplement: LIV-45-0-s001.xlsx › Supplemental_Table3

Gene-environmental interactions: Lessons from porphyria.

Sassa S

Environmental Health and Preventive Medicine, 2003

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."