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Human Mutation|September 16, 2020
A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variantsIbrahim Almazni, Rachel J Stapley, Abdullah O Khan, et al.Human Mutation|July 15, 2021
Variants of human CLDN9 cause mild to profound hearing lossMemoona Ramzan, Christophe Philippe, Inna A Belyantseva, et al.Human Mutation|July 10, 2021
The prevalence of HLA-I LOH in Chinese pan-cancer patients and genomic features of patients harboring HLA-I LOHJian Zhao, Xiaoxiong Xiao, Yue Li, et al.Human Mutation|June 21, 2021
Global spectrum of population-specific common missense variation in cytochrome P450 pharmacogenesCheng-Shoong Chong, Vachiranee Limviphuvadh, Sebastian Maurer-StrohHuman Mutation|June 1, 2022
The human ATP-binding cassette (ABC) transporter superfamilyMichael Dean, Karobi Moitra, Rando AllikmetsHuman Mutation|June 26, 2022
First splicing variant in HECW2 with an autosomal recessive pattern of inheritance and associated with NDHSALMaría Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Marcello Bellusci, et al.Human Mutation|June 20, 2022
Clinical presentation and genetic analyses of neurofibromatosis type 1 in independent patients with monoallelic double de novo closely spaced mutations in the NF1 geneAlessandro Stella, Patrizia Lastella, Luigi Viggiano, et al.Human Mutation|May 5, 2022
Altered closed state inactivation gating in Kv4.2 channels results in developmental and epileptic encephalopathies in human patientsSelvan Bavan, Howard P Goodkin, Diane M PapazianHuman Mutation|July 12, 2022
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical managementAdeline Goudal, Matilde Karakachoff, Pierre Lindenbaum, et al.Pageof 583