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Human Mutation|March 18, 2011
A novel nonstop mutation in TYMP does not induce nonstop mRNA decay in a MNGIE patient with severe neuropathyJavier Torres-Torronteras, Agustí Rodriguez-Palmero, Tomàs Pinós, et al.Human Mutation|March 18, 2011
Carpenter syndrome: extended RAB23 mutation spectrum and analysis of nonsense-mediated mRNA decayDagan Jenkins, Gareth Baynam, Luc De Catte, et al.Human Mutation|March 18, 2011
Exploring the functional consequences of genomic variation: the 2010 Human Genome Variation Society Scientific MeetingWilliam S OettingHuman Mutation|March 31, 2011
Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunityJérémy Manry, Guillaume Laval, Etienne Patin, et al.Human Mutation|April 8, 2011
Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutantsDeborah A Jensen, Andrzej Steplewski, Katarzyna Gawron, et al.Human Mutation|July 30, 2019
Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examplesAnnemieke Aartsma-Rus, Johan T den DunnenHuman Mutation|July 26, 2019
Incorporation of semi-quantitative analysis of splicing alterations for the clinical interpretation of variants in BRCA1 and BRCA2 genesGemma Montalban, Sandra Bonache, Alejandro Moles-Fernández, et al.Human Mutation|July 26, 2019
Iranome: A catalog of genomic variations in the Iranian populationZohreh Fattahi, Maryam Beheshtian, Marzieh Mohseni, et al.Human Mutation|July 14, 2019
Assessing predictions of the impact of variants on splicing in CAGI5Stephen M Mount, Žiga Avsec, Liran Carmel, et al.Human Mutation|October 30, 2013
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary ciliumSophie Thomas, Kevin J Wright, Stéphanie Le Corre, et al.Pageof 583