Associated Papers
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
36413997 (PubMed )
Supplement: mmc4.xlsx › clinvar_20201219
Genetics of lipodystrophy syndromes.
Jéru I
Presse Medicale (paris, France : 1983), 2021
Clinical Utility Gene Card for: Familial partial lipodystrophy.
Jéru I et al.
European Journal of Human Genetics : Ejhg, 2017
Nuclear lamins: laminopathies and their role in premature ageing.
Broers JL et al.
Physiological Reviews, 2006
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations.
Sewry CA et al.
Neuropathology and Applied Neurobiology, 2001
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