Varaico: Literature-Extracted Genetic Variants

Gene:HFE
Variant:p.R224W
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HFE

NM_000410.4:p.R224W

Associated Papers

Computational analysis and molecular dynamics insights into deleterious SNPs of the HFE gene.

Islam MS et al.

Journal of Biomolecular Structure & Dynamics, 2025

Whole-Exome Sequencing Reveals Novel Candidate Driver Mutations and Potential Druggable Mutations in Patients with High-Risk Neuroblastoma.

Nokchan N et al.

Journal of Personalized Medicine, 2024

39338204 (PubMed )
Supplement: jpm-14-00950-s001.zip › Supplementary_Table_S4.xlsx › Supplementary_Table_S4.

Case report: DSP truncation variant p. R1951X leads to arrhythmogenic left ventricular cardiomyopathy.

Chen V et al.

European Heart Journal. Case Reports, 2022

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing.

Kenna KP et al.

Journal of Medical Genetics, 2013

23881933 (PubMed )
Supplement: jmedgenet-2013-101795-s1.pdf

HFE gene mutations in a population of Italian Parkinson's disease patients.

Biasiotto G et al.

Parkinsonism & Related Disorders, 2008

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