Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.R22H
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HMBS

NM_000190.4:p.R22H

Associated Papers

Estimating carrier rates and prevalence of porphyria-associated gene variants in the Chinese population based on genetic databases.

Wang Y et al.

Orphanet Journal of Rare Diseases, 2024

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

Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.

Wu Y et al.

Frontiers in Genetics, 2021

34868264 (PubMed )
Supplement: Table2.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."