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
Geographic prevalence variation and phenotype penetrance in porphyria: insights from a Chinese population database.
Li P et al.
Blood Advances, 2021
33570620 (PubMed )
Supplement: advancesadv2020003150-suppl1.pdf
Systematically Analyzing the Pathogenic Variations for Acute Intermittent Porphyria.
Fu Y et al.
Frontiers in Pharmacology, 2019
31572191 (PubMed )
Supplement: Table_2.xlsx › HMBS.vcf.hg19_multianno
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