Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.A189T
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HMBS

NM_000190.4:p.A189T

Associated Papers

Genome mining yields putative disease-associated ROMK variants with distinct defects.

Nguyen NH et al.

Plos Genetics, 2023

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

Genome mining yields new disease-associated ROMK variants with distinct defects.

Nguyen NH et al.

Biorxiv : the Preprint Server for Biology, 2023

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