Associated Papers
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P et al.
Brain : a Journal of Neurology, 2024
38366623 (PubMed )
Supplement: awae046_supplementary_data.zip › brain-2023-01831-File011.xlsx › F1.II.2
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Glentis S et al.
Frontiers in Genetics, 2019
31681433 (PubMed )
Supplement: DataSheet_1.xlsx › Supplemetary_Table_10
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
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