Skip to content
DraconiticResearch
Search Sources API
197,768 studies31 sourcesUpdated 27 min ago
Peer-reviewedCC BYFrontiers in genetics

Burden of pathogenic variants in genes associated with medically actionable disease in the Slovenian population

  1. 1Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana , ,

Related

  1. Deciphering isonicotinylation and mast cell-associated pathogenic patterns in Duchenne muscular dystrophy: evidence from ensemble learning-driven multi-omics and in vitro validation
    Sunrui Yu, Duojia Xu, Yuting Hua +2
    Frontiers in Molecular BiosciencesPeer-reviewedCC BY 4.0Full textMolecular biology & gene regulationPMC
  2. Molecular context of pathogenic variants is associated with phenotype and treatment response in SCN8A-related disorders
    J. Hack, J. C. Watkins, M. Hammer
    bioRxivPreprintCC BY-NCFull textMolecular biology & gene regulationbioRxiv
  3. Physicochemical Approaches to Medically Relevant Biofilms: Detection, Characterization, Prevention, Disruption, and Magnetic-Field-Based Strategies.
    Victor Andrei Drugă, Mărioara Drugă, Maria Șorop-Florea +5
    Antibiotics (Basel, Switzerland)Peer-reviewedCC BYFull textMolecular biology & gene regulationEurope PMC
  4. Proteomic machine-learning signatures associated with carotid plaque: A population-based hypothesis-generating study
    Anna Szpakowicz, Wojciech Lesiński, Jakub K. Tuchliński +6
    PLOS OnePeer-reviewedCC BY 4.0Full textProteomics & metabolomicsCell biologyPLOS
  5. Gut microbiota-ferroptosis signaling as a putative feed-forward amplifier of pulmonary immunometabolic reprogramming in acute respiratory distress syndrome: actionable therapeutic targets
    Biying Dong, Weitong Zeng, Bing Zhong +5
    Frontiers in ImmunologyPeer-reviewedCC BY 4.0Molecular biology & gene regulationCrossref
BibTeX
@article{kotnik2026burden,
  title = {{Burden of pathogenic variants in genes associated with medically actionable disease in the Slovenian population}},
  author = {Urška Kotnik and Luca Lovrecic and Borut Peterlin},
  journal = {Frontiers in genetics},
  year = {2026},
  month = oct,
  url = {https://europepmc.org/article/PMC/PMC13668850},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - Burden of pathogenic variants in genes associated with medically actionable disease in the Slovenian population
AU  - Urška Kotnik
AU  - Luca Lovrecic
AU  - Borut Peterlin
PY  - 2026
DA  - 2026/10/19
JO  - Frontiers in genetics
UR  - https://europepmc.org/article/PMC/PMC13668850
SN  - 1664-8021
ER  -