Associated Papers
Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.
Zhang Z et al.
Diagnostics (basel, Switzerland), 2025
41464097 (PubMed )
Supplement: diagnostics-15-03097-s001.zip › Table_S2.xls › Genetic_Analysis_Variant_List
Allelic background of LEPRE1 mutations that cause recessive forms of osteogenesis imperfecta in different populations.
Pepin MG et al.
Molecular Genetics & Genomic Medicine, 2013
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