Varaico: Literature-Extracted Genetic Variants

Gene:HMBS
Variant:p.L97delFs
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HMBS

NM_000190.4:p.L97delFs

Associated Papers

Givosiran in acute intermittent porphyria: A personalized medicine approach.

Poli A et al.

Molecular Genetics and Metabolism, 2022

Kidney Involvement in Acute Hepatic Porphyrias: Pathophysiology and Diagnostic Implications.

Ricci A et al.

Diagnostics (basel, Switzerland), 2021

A Variant of Peptide Transporter 2 Predicts the Severity of Porphyria-Associated Kidney Disease.

Tchernitchko D et al.

Journal of the American Society of Nephrology : Jasn, 2017

High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria.

Pallet N et al.

Kidney International, 2015

Molecular and biochemical studies of acute intermittent porphyria in 196 patients and their families.

Kauppinen R et al.

Clinical Chemistry, 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."