Associated Papers
Rare disease gene association discovery in the 100,000 Genomes Project.
Cipriani V et al.
Nature, 2025
Melatonin receptor 1A variants as genetic cause of idiopathic osteoporosis.
Bisikirska B et al.
Science Translational Medicine, 2024
39413162 (PubMed )
Supplement: scitranslmed.adj0085_data_files_s1_to_s10.zip › adj0085_data_file_s1.xlsx › Sheet1
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
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