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Human Mutation|February 28, 2018
A functional polymorphism in the pre-miR-146a gene is associated with the risk of nonsyndromic orofacial cleftYongchu Pan, Dandan Li, Shu Lou, et al.Human Mutation|March 6, 2018
ABCA3 missense mutations causing surfactant dysfunction disorders have distinct cellular phenotypesUlrike Schindlbeck, Thomas Wittmann, Stefanie Höppner, et al.Human Mutation|June 13, 2012
Mutations in PLOD2 cause autosomal-recessive connective tissue disorders within the Bruck syndrome--osteogenesis imperfecta phenotypic spectrumMaria Trinidad Puig-Hervás, Samia Temtamy, Mona Aglan, et al.Human Mutation|May 24, 2012
Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutationsMirko Pinotti, Pierpaolo Caruso, Alessandro Canella, et al.Human Mutation|May 25, 2012
Conserved and quickly evolving immunome genes have different evolutionary pathsCsaba Ortutay, Mauno VihinenHuman Mutation|April 18, 2012
Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutasePeter Huppke, Cornelia Brendel, Georg Christoph Korenke, et al.Human Mutation|August 13, 2015
Expanding the Molecular and Clinical Phenotype of SSR4-CDGBobby G Ng, Kimiyo Raymond, Martin Kircher, et al.Human Mutation|December 31, 2013
DIAMUND: direct comparison of genomes to detect mutationsSteven L Salzberg, Mihaela Pertea, Jill A Fahrner, et al.Human Mutation|May 26, 2017
Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challengesBinghuang Cai, Biao Li, Nikki Kiga, et al.Human Mutation|May 31, 2017
Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotypeArnaud Boulling, Emmanuelle Masson, Wen-Bin Zou, et al.Pageof 583