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Human Mutation|April 29, 1998
Molecular analysis and clinical findings in the Spanish Gaucher disease population: putative haplotype of the N370S ancestral chromosomeB Cormand, D Grinberg, L Gort, et al.Human Mutation|April 29, 1998
Identification of a novel point mutation (S65T) in alpha-galactosidase A gene in Chinese patients with Fabry disease. Mutations in brief no. 169. OnlineC H Chen, P W Shyu, S J Wu, et al.Human Mutation|April 29, 1998
A novel lysosomal acid lipase gene mutation in a patient with cholesteryl ester storage diseaseI Redonnet-Vernhet, M Chatelut, R Salvayre, et al.Human Mutation|April 29, 1998
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian originG B Leoni, S Pitzalis, R Tonelli, et al.Human Mutation|April 29, 1998
Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL geneM J O'Neill, B Tridjaja, M J Smith, et al.Human Mutation|June 4, 2015
Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype DataChristopher M Watson, Laura A Crinnion, Juliana Gurgel-Gianetti, et al.Human Mutation|June 3, 2020
Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivationKimiko Katoh, Kaori Aiba, Daisuke Fukushi, et al.Human Mutation|June 3, 2020
Suggested application of HER2+ breast tumor phenotype for germline TP53 variant classification within ACMG/AMP guidelinesCristina Fortuno, Jessica Mester, Tina Pesaran, et al.Human Mutation|January 1, 1992
Cystic fibrosis patients with mutation 1949del84 in exon 13 of the CFTR gene have a similar clinical severity as delta F508 homozygotesV Nunes, T Casals, A Gaona, et al.Pageof 583