Associated Papers
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals.
Dzhumaniiazova I et al.
Genes, 2025
41153446 (PubMed )
Supplement: genes-16-01228-s001.zip › genes-3881151-supplementary_tables.xlsx › S1
Joint genotypic and phenotypic outcome modeling improves base editing variant effect quantification.
Ryu J et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
37732177 (PubMed )
Supplement: media-3.zip › Supplementary_Tables › TableS8_features_full_struc.xlsx › in
Clinical Evaluation of Patients with Genetically Confirmed Familial Hypercholesterolemia.
Aparicio A et al.
Journal of Clinical Medicine, 2023
Mutation type classification and pathogenicity assignment of sixteen missense variants located in the EGF-precursor homology domain of the LDLR.
Galicia-Garcia U et al.
Scientific Reports, 2020
32015373 (PubMed )
Supplement: 41598_2020_58734_MOESM1_ESM.pdf
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M et al.
Human Mutation, 2010
Association study between candidate genes and obesity-related phenotypes using a sample of lumberjacks.
Chamberland A et al.
Public Health Genomics, 2009
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