Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
Diagnostic Uptake of Targeted Sequencing in Adults With Steatotic Liver Disease and a Suspected Genetic Contribution.
Ronzoni L et al.
Liver International : Official Journal of the International Association for the Study of the Liver, 2025
39945383 (PubMed )
Supplement: LIV-45-0-s006.docx
Functional characterisation of missense ceruloplasmin variants and real-world prevalence assessment of Aceruloplasminemia using population data.
Ziliotto N et al.
Ebiomedicine, 2025
The landscape of rare genetic variants in familial Waldenström macroglobulinemia.
Pemov A et al.
Blood Neoplasia, 2024
39036705 (PubMed )
Supplement: BNEO_NEO-2023-000111-mmc4.xlsx › Supplementary_Table_4
Case report: Motor neuron disease phenotype associated with symptomatic copper deficiency: Challenging diagnosis and treatment.
Benkirane A et al.
Frontiers in Neurology, 2022
Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia.
Ravasi G et al.
Genes, 2021
Ceruloplasmin variants might have different effects in different iron overload disorders.
Pelucchi S et al.
Journal of Hepatology, 2021
Sacral agenesis: a pilot whole exome sequencing and copy number study.
Porsch RM et al.
Bmc Medical Genetics, 2016
28007035 (PubMed )
Supplement: 12881_2016_359_MOESM2_ESM.xlsx › all_variants
Single-nucleotide polymorphisms and haplotypes of non-coding area in the CP gene are correlated with Parkinson's disease.
Zhao N et al.
Neuroscience Bulletin, 2015
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