Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.Q29K
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HMBS

NM_000190.4:p.Q29K

Associated Papers

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

Ornate, large, extremophilic (OLE) RNA forms a kink turn necessary for OapC protein recognition and RNA function.

Lyon SE et al.

The Journal of Biological Chemistry, 2022

36336078 (PubMed )
Supplement: mmc1.docx
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