Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
41727046 (PubMed )
Supplement: media-7.xlsx › VarChAMP_data_supp_mat_PP
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.
Ravasi G et al.
Genes, 2021
34828384 (PubMed )
Supplement: genes-12-01778-s001.zip › genes-1451461-supplementary.pdf
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
31515488 (PubMed )
Supplement: 41467_2019_11959_MOESM11_ESM.xlsx › SD7_-_Drug_Targets
Analysis of ferritin genes in Parkinson disease.
Foglieni B et al.
Clinical Chemistry and Laboratory Medicine, 2007
Disturbance of iron metabolism in Parkinson's disease -- ultrasonography as a biomarker.
Berg D et al.
Neurotoxicity Research, 2006
Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra.
Felletschin B et al.
Neuroscience Letters, 2003
Iron overload is not the same everywhere: Particularities of iron-metabolism gene mutations in Brazil and a proposal for the investigation and management of iron overload in this population.
de Melo Campos P et al.
Hematology, Transfusion and Cell Therapy, 0
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