Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.A152V
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HMBS

NM_000190.4:p.A152V

Associated Papers

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation.

van Loggerenberg W et al.

American Journal of Human Genetics, 2023

37729906 (PubMed )
Supplement: mmc3.xlsx › Supplemental_Table_S8

Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.

Fu Y et al.

Frontiers in Pharmacology, 2019

31572191 (PubMed )
Supplement: Table_3.xlsx › Sheet1
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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."