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Human Mutation|January 1, 1996
Mutation in the carboxy-terminal propeptide of the Pro alpha 1(I) chain of type I collagen in a child with severe osteogenesis imperfecta (OI type III): possible implications for protein foldingJ E Oliver, E M Thompson, F M Pope, et al.Human Mutation|January 1, 1996
Phenotypic expression in double heterozygotes for familial hypercholesterolemia and familial defective apolipoprotein B-100P Benlian, J L de Gennes, F Dairou, et al.Human Mutation|November 19, 2016
Human RECQ Helicase Pathogenic Variants, Population Variation and "Missing" DiseasesWenqing Fu, Alessio Ligabue, Kai J Rogers, et al.Human Mutation|November 19, 2016
A Cell Type-Specific Expression Signature Predicts Haploinsufficient Autism-Susceptibility GenesChaolin Zhang, Yufeng ShenHuman Mutation|May 7, 2014
Mutation update for GNE gene variants associated with GNE myopathyFrank V Celeste, Thierry Vilboux, Carla Ciccone, et al.Human Mutation|April 5, 2014
Analysis of TP53 mutation status in human cancer cell lines: a reassessmentBernard Leroy, Luc Girard, Antoinette Hollestelle, et al.Human Mutation|December 25, 2007
Recommendations for locus-specific databases and their curationR G H Cotton, A D Auerbach, J S Beckmann, et al.Human Mutation|December 25, 2007
Progranulin locus deletion in frontotemporal dementiaI Gijselinck, J van der Zee, S Engelborghs, et al.Human Mutation|December 25, 2007
An unusual case of hemochromatosis due to a new compound heterozygosity in HFE (p.[Gly43Asp;His63Asp]+[Cys282Tyr]): structural implications with respect to binding with transferrin receptor 1François-Yves Dupradeau, Serge Pissard, Marie-Pierre Coulhon, et al.Human Mutation|December 28, 2016
Synonymous Somatic Variants in Human Cancer Are Not Infamous: A Plea for Full Disclosure in Databases and PublicationsThierry Soussi, Peter E M Taschner, Yardena SamuelsPageof 583