Varaico: Literature-Extracted Genetic Variants

Gene:HSD17B13
Variant:p.M1insFs
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HSD17B13

NM_178135.5:p.M1insFs

Associated Papers

Germline mutations and somatic mosaicism in steatotic liver diseases and related liver carcinogenesis.

Trépo E et al.

Nature Reviews. Gastroenterology & Hepatology, 2026

Glucagon Receptor Deficiency Causes Early-Onset Hepatic Steatosis.

Cacciottolo TM et al.

Diabetes, 2025

40854221 (PubMed )
Supplement: db250209_supp.pdf

Germline Variants Influence Chronic Liver Disease Progression through Distinct Pathways.

Vujkovic M et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

Steatotic liver disease associated with 2,4-dienoyl-CoA reductase 1 deficiency.

Kohlmaier B et al.

International Journal of Obesity (2005), 2024

39277655 (PubMed )
Supplement: 41366_2024_1634_MOESM1_ESM.docx

Genetics of Metabolic Dysfunction-associated Steatotic Liver Disease: The State of the Art Update.

Sookoian S et al.

Clinical Gastroenterology and Hepatology : the Official Clinical Practice Journal of the American Gastroenterological Association, 2024

The contribution of genetics and epigenetics to MAFLD susceptibility.

Moretti V et al.

Hepatology International, 2024

Integrative common and rare variant analyses provide insights into the genetic architecture of liver cirrhosis.

Ghouse J et al.

Nature Genetics, 2024

Effects of protein-coding variants on blood metabolite measurements and clinical biomarkers in the UK Biobank.

Nag A et al.

American Journal of Human Genetics, 2023

Multiomics study of nonalcoholic fatty liver disease.

Sveinbjornsson G et al.

Nature Genetics, 2022

Review article: the emerging role of genetics in precision medicine for patients with non-alcoholic steatohepatitis.

Carlsson B et al.

Alimentary Pharmacology & Therapeutics, 2020

Toward Genetic Prediction of Nonalcoholic Fatty Liver Disease Trajectories: PNPLA3 and Beyond.

Krawczyk M et al.

Gastroenterology, 2020

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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."