Associated Papers
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 2024
39273284 (PubMed )
Supplement: ijms-25-09335-s001.zip › ijms-3137350-supplementary.pdf
Prognostic value of pathogenic variants in Lafora Disease: systematic review and meta-analysis of patient-level data.
Pondrelli F et al.
Orphanet Journal of Rare Diseases, 2023
37658439 (PubMed )
Supplement: 13023_2023_2880_MOESM2_ESM.xlsx › STAB2_NHLRC1
Actionable Pharmacogenetic Variation in the Slovenian Genomic Database.
Hočevar K et al.
Frontiers in Pharmacology, 2019
30930780 (PubMed )
Supplement: Table_6.xlsx › Sheet1
A recurrent homozygous NHLRC1 variant in siblings with Lafora disease.
Araya N et al.
Human Genome Variation, 2018
Select a paper to view details