Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.K115Splc
Back to variants list

HMBS

NM_000190.4:p.K115Splc

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

Molecular genetic study of acute intermittent porphyria in Russia: HMBS gene mutation spectrum and problem of penetrance.

Goncharova M et al.

Clinical Genetics, 2019

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_
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."