Varaico: Literature-Extracted Genetic Variants

Gene:HERPUD1
Variant:p.R50H
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HERPUD1

NM_014685.4:p.R50H

Associated Papers

Circulating cell-free DNA profiling reveals ancestry-dependent genetic variation in metastatic prostate cancer.

Maleknia S et al.

Molecular Biomedicine, 2026

41673362 (PubMed )
Supplement: 43556_2026_405_MOESM2_ESM.xlsx › cfDNA_Variants

A Particular SORL1 Micro-haplotype May Prevent Severe Liver Disease in a French Cohort of Alpha 1-Antitrypsin-deficient Children.

Joly P et al.

Journal of Pediatric Gastroenterology and Nutrition, 2021

Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.

Bresadola L et al.

International Journal of Molecular Sciences, 2021

34299215 (PubMed )
Supplement: ijms-22-07583-s001.zip › SupplementaryTable3.xlsx › germline_mutations

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

Alpha 1-Antitrypsin Deficiency: A Disorder of Proteostasis-Mediated Protein Folding and Trafficking Pathways.

Karatas E et al.

International Journal of Molecular Sciences, 2020

SERPINA1 and MAN1B1 polymorphisms are not linked to severe liver disease in a French cohort of alpha-1 antitrypsin deficiency children.

Joly P et al.

Liver International : Official Journal of the International Association for the Study of the Liver, 2017

ERAD defects and the HFE-H63D variant are associated with increased risk of liver damages in Alpha 1-Antitrypsin Deficiency.

Joly P et al.

Plos One, 2017

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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."