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Human Mutation|January 1, 1993
Base substitutions in the human dystrophin gene: detection by using the single-strand conformation polymorphism (SSCP) techniqueS Tuffery, P Moine, J Demaille, et al.Human Mutation|January 1, 1993
Identification of two novel beta zero-thalassemia mutations in a Filipino family: frameshift codon 67 (-TG) and a beta-globin gene deletionB Eng, D H Chui, J Saunderson, et al.Human Mutation|January 1, 1993
A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV probandJ D Filie, B M Orrison, Q Wang, et al.Human Mutation|February 10, 2021
TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical developmentGeeske M van Woerden, Melanie Bos, Charlotte de Konink, et al.Human Mutation|February 18, 2021
Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variantYael Goldberg, Yael Laitman, Merav Ben David, et al.Human Mutation|February 18, 2021
Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20Georgios Nikolopoulos, Claire E L Smith, James A Poulter, et al.Human Mutation|February 18, 2021
Loss-of-function variants in ARHGEF9 are associated with an X-linked intellectual disability dominant disorderLeïla Ghesh, Thomas Besnard, Mathilde Nizon, et al.Human Mutation|February 18, 2021
A global analysis of the reconstitution of PTEN function by translational readthrough of PTEN pathogenic premature termination codonsSandra Luna, Leire Torices, Janire Mingo, et al.Human Mutation|August 3, 2019
ATP1A1 mutations cause intermediate Charcot-Marie-Tooth diseaseJin He, Lingling Guo, Shan Lin, et al.Human Mutation|September 1, 2019
Sequencing-based microsatellite instability testing using as few as six markers for high-throughput clinical diagnosticsRichard Gallon, Harsh Sheth, Christine Hayes, et al.Pageof 583