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Human Mutation|December 27, 2018
A novel mutation of PANK4 causes autosomal dominant congenital posterior cataractMin Sun, Chunlin Chen, Shengping Hou, et al.Human Mutation|November 10, 2019
Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophiesChao Ling, Yi Dai, Li Fang, et al.Human Mutation|November 26, 2019
Congenital myasthenic syndrome due to mutations in MUSK suggests that the level of MuSK phosphorylation is crucial for governing synaptic structurePedro M Rodríguez Cruz, Judith Cossins, Jonathan Cheung, et al.Human Mutation|November 27, 2019
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathyNurit Assia Batzir, Pranjali Kishor Bhagwat, Austin Larson, et al.Human Mutation|December 3, 2017
Properties of human genes guided by their enrichment in rare and common variantsEman Alhuzimi, Luis G Leal, Michael J E Sternberg, et al.Human Mutation|December 12, 2017
Major improvement in the detection of microsatellite instability in colorectal cancer using HSP110 T17 E-ice-COLD-PCRAlexandre How-Kit, Antoine Daunay, Olivier Buhard, et al.Human Mutation|December 29, 2019
Osteoporosis genome-wide association study variant c.3781 C>A is regulated by a novel anti-osteogenic factor miR-345-5pYa Wang, Weiyuan Ye, Yuyong Liu, et al.Human Mutation|February 16, 2018
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutationsTimothy R Rebbeck, Tara M Friebel, Eitan Friedman, et al.Human Mutation|February 13, 2018
MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitroTaimoor I Sheikh, Ricardo Harripaul, Muhammad Ayub, et al.Human Mutation|March 10, 2018
Neurofibromin (NF1) genetic variant structure-function analyses using a full-length mouse cDNADeeann Wallis, Kairong Li, Hui Lui, et al.Pageof 583