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Human Mutation|June 22, 2021
Identification of seven exonic variants in the SLC4A1, ATP6V1B1, and ATP6V0A4 genes that alter RNA splicing by minigene assayRuixiao Zhang, Zeqing Chen, Qijing Song, et al.Human Mutation|May 10, 2022
Seven years since the launch of the Matchmaker Exchange: The evolution of genomic matchmakingKym M Boycott, Danielle R Azzariti, Ada Hamosh, et al.Human Mutation|June 1, 2022
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypesDmitrii Smirnov, Lea D Schlieben, Fatemeh Peymani, et al.Human Mutation|May 24, 2022
Three novel FHL1 variants cause a mild phenotype of Emery-Dreifuss muscular dystrophyJosefine D S Borch, Thomas Krag, Sonja D Holm-Yildiz, et al.Human Mutation|June 20, 2022
Screening of potential novel candidate genes in schwannomatosis patientsCristina Perez-Becerril, Andrew J Wallace, Helene Schlecht, et al.Human Mutation|June 22, 2022
The MAP3K7 gene: Further delineation of clinical characteristics and genotype/phenotype correlationsGeeske M van Woerden, Richelle Senden, Charlotte de Konink, et al.Human Mutation|May 31, 2021
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1APriyanka Upadhyai, Periyasamy Radhakrishnan, Vishal S Guleria, et al.Human Mutation|February 13, 2020
FANCL gene mutations in premature ovarian insufficiencyYajuan Yang, Ting Guo, Ran Liu, et al.Human Mutation|February 26, 2020
ZMYND11-related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrumThabo M Yates, Morgan Drucker, Angela Barnicoat, et al.Human Mutation|March 4, 2020
AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotidesKatharina Wimmer, Esther Schamschula, Annekatrin Wernstedt, et al.Pageof 583