Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.Q29_L30Splc
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HMBS

NM_000190.4:p.Q29_L30Splc

Associated Papers

Risk of primary liver cancer in acute hepatic porphyria patients: A matched cohort study of 1244 individuals.

Lissing M et al.

Journal of Internal Medicine, 2022

Acute intermittent porphyria in Argentina: an update.

Cerbino GN et al.

Biomed Research International, 2015

Acute intermittent porphyria in Sweden. Molecular, functional and clinical consequences of some new mutations found in the porphobilinogen deaminase gene.

Floderus Y et al.

Clinical Genetics, 2002

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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."