Associated Papers
Early-onset multivalvular disease caused by a missense variant in lamin A/C.
Janin A et al.
Hgg Advances, 2025
40783787 (PubMed )
Supplement: mmc1.pdf
Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.
Parra-Perez AM et al.
Medcomm, 2025
40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13
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
Deleterious variants in DCHS1 are prevalent in sporadic cases of mitral valve prolapse.
Clemenceau A et al.
Molecular Genetics & Genomic Medicine, 2018
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