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Human Mutation|April 21, 2016
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation DeficiencyChloé Saunier, Svein Isungset Støve, Bernt Popp, et al.Human Mutation|August 18, 2017
Assessing predictions of fitness effects of missense mutations in SUMO-conjugating enzyme UBE2IJing Zhang, Lisa N Kinch, Qian Cong, et al.Human Mutation|July 27, 2017
IFN-γR1 defects: Mutation update and description of the IFNGR1 variation databaseEsther van de Vosse, Jaap T van DisselHuman Mutation|August 5, 2017
Identification and functional characterization of two missense mutations in NDRG1 associated with Charcot-Marie-Tooth disease type 4DLi-Xi Li, Gong-Lu Liu, Zhi-Jun Liu, et al.Human Mutation|August 6, 2017
PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delayRegina Proskorovski-Ohayon, Rotem Kadir, Analia Michalowski, et al.Human Mutation|October 14, 2017
Functional characterization of five NR5A1 gene mutations found in patients with 46,XY disorders of sex developmentHelena Fabbri-Scallet, Maricilda Palandi de Mello, Gil Guerra-Júnior, et al.Human Mutation|September 24, 2017
Molecular and clinical spectra of FBXL4 deficiencyAyman W El-Hattab, Hongzheng Dai, Mohammed Almannai, et al.Human Mutation|September 2, 2017
Identification and functional analysis of CORIN variants in hypertensive patientsYue Zhang, Tiantian Zhou, Yayan Niu, et al.Human Mutation|September 8, 2017
Molecular genetics of syndromic and non-syndromic forms of parathyroid carcinomaLuís Cardoso, Mark Stevenson, Rajesh V ThakkerHuman Mutation|September 13, 2017
Identification and characterization of three novel mutations in the CASQ1 gene in four patients with tubular aggregate myopathyVirginia Barone, Valeria Del Re, Alessandra Gamberucci, et al.Pageof 583