Associated Papers
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-s005.xlsx › Table_2-2
Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.
Kovanda A et al.
International Journal of Molecular Sciences, 2024
39062917 (PubMed )
Supplement: ijms-25-07674-s001.zip › Supplementary_table_3.xlsx › ACMG_classified_variants
Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.
Machnicki MM et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021
33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants
Hepatic patatin-like phospholipase domain-containing protein 3 sequence, single nucleotide polymorphism presence, protein confirmation, and responsiveness to energy balance in dairy cows.
McCann CC et al.
Journal of Dairy Science, 2014
Next-generation sequence analysis of genes associated with obesity and nonalcoholic fatty liver disease-related cirrhosis in extreme obesity.
Gerhard GS et al.
Human Heredity, 2013
Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.
Romeo S et al.
Nature Genetics, 2008
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