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Human Mutation|October 3, 2017
Mild phenotypes and proper supercomplex assembly in human cells carrying the homoplasmic m.15557G > A mutation in cytochrome b geneLuisa Iommarini, Anna Ghelli, Giulia Leone, et al.Human Mutation|September 15, 2017
Biallelic variants in WARS2 encoding mitochondrial tryptophanyl-tRNA synthase in six individuals with mitochondrial encephalopathySaskia B Wortmann, Sharita Timal, Hanka Venselaar, et al.Human Mutation|September 30, 2016
Mutation in SSUH2 Causes Autosomal-Dominant Dentin Dysplasia Type IFu Xiong, Zhisong Ji, Yanhui Liu, et al.Human Mutation|September 28, 2016
A Comprehensive Functional Analysis of NTRK1 Missense Mutations Causing Hereditary Sensory and Autonomic Neuropathy Type IV (HSAN IV)Samiha S Shaikh, Ya-Chun Chen, Sally-Anne Halsall, et al.Human Mutation|March 15, 2019
Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlationEmanuele G Coci, Vytautas Gapsys, Natasha Shur, et al.Human Mutation|September 19, 2019
Minigene splicing assessment of 20 novel synonymous and intronic glucokinase gene variants identified in patients with maturity-onset diabetes of the youngAnatoly Tiulpakov, Natalia Zubkova, Nina Makretskaya, et al.Human Mutation|March 1, 2019
Alu element insertion in the MLH1 exon 6 coding sequence as a mutation predisposing to Lynch syndromeJérôme Solassol, Marion Larrieux, Julie Leclerc, et al.Human Mutation|March 2, 2019
Genetic interpretation and clinical translation of minor genes related to Brugada syndromeOscar Campuzano, Georgia Sarquella-Brugada, Anna Fernandez-Falgueras, et al.Human Mutation|March 7, 2019
A quantitative model to predict pathogenicity of missense variants in the TP53 geneCristina Fortuno, Arcadi Cipponi, Mandy L Ballinger, et al.Human Mutation|March 10, 2019
Two CFTR mutations within codon 970 differently impact on the chloride channel functionalityFelice Amato, Paolo Scudieri, Ilaria Musante, et al.Pageof 583