Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.N171S
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HMBS

NM_000190.4:p.N171S

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

van Loggerenberg W et al.

Biorxiv : the Preprint Server for Biology, 2023

36798224 (PubMed )
Supplement: media-3.pdf
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