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Human Mutation|February 12, 2019
Cerebral hypomyelination associated with biallelic variants of FIG4Guy M Lenk, Ian R Berry, Chloe A Stutterd, et al.Human Mutation|January 4, 2018
Loss-of-function mutations in ISCA2 disrupt 4Fe-4S cluster machinery and cause a fatal leukodystrophy with hyperglycinemia and mtDNA depletionJoseph T Alaimo, Arnaud Besse, Charlotte L Alston, et al.Human Mutation|February 2, 2018
Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia BMattia Ferrarese, Maria Francesca Testa, Dario Balestra, et al.Human Mutation|February 3, 2018
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3Dorien Schepers, Giada Tortora, Hiroko Morisaki, et al.Human Mutation|January 10, 2018
Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseFrancesco Bruni, Ivano Di Meo, Emanuele Bellacchio, et al.Human Mutation|July 17, 2021
An updated quantitative model to classify missense variants in the TP53 gene: A novel multifactorial strategyCristina Fortuno, Tina Pesaran, Jill Dolinsky, et al.Human Mutation|July 17, 2021
Pathogenic noncoding variants in the neurofibromatosis and schwannomatosis predisposition genesCristina Perez-Becerril, D Gareth Evans, Miriam J SmithHuman Mutation|July 21, 2021
Epistatic interaction of PDE4DIP and DES mutations in familial atrial fibrillation with slow conductionMaen D Abou Ziki, Neha Bhat, Arpita Neogi, et al.Human Mutation|July 23, 2021
SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literatureMatthew M Heeney, Simon Berhe, Dean R Campagna, et al.Human Mutation|June 3, 2021
Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variantsDuyen H Pham, Melissa R Pitman, Raman Kumar, et al.Pageof 583