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Human Mutation|February 4, 2010
Genetic diagnosis of familial breast cancer using clonal sequencingJoanne E Morgan, Ian M Carr, Eamonn Sheridan, et al.Human Mutation|February 4, 2010
Disruption of OTC promoter-enhancer interaction in a patient with symptoms of ornithine carbamoyltransferase deficiencyOndrej Luksan, Milan Jirsa, Jitka Eberova, et al.Human Mutation|June 13, 2019
A mutation creating an upstream translation initiation codon in SLC22A5 5'UTR is a frequent cause of primary carnitine deficiencySacha Ferdinandusse, Heleen Te Brinke, Jos P N Ruiter, et al.Human Mutation|August 26, 2018
Relationship of electrophysiological dysfunction and clinical severity in SCN2A-related epilepsiesStephan Lauxmann, Nienke E Verbeek, Yuanyuan Liu, et al.Human Mutation|August 30, 2018
Variable cardiovascular phenotypes associated with SMAD2 pathogenic variantsJorge L Granadillo, Wendy K Chung, Leah Hecht, et al.Human Mutation|May 9, 2019
CAGI experiments: Modeling sequence variant impact on gene splicing using predictions from computational toolsValer Gotea, Gennady Margolin, Laura ElnitskiHuman Mutation|May 11, 2019
Characterization of human frataxin missense variants in cancer tissuesMaria Petrosino, Alessandra Pasquo, Leonore Novak, et al.Human Mutation|June 29, 2019
TAB2 c.1398dup variant leads to haploinsufficiency and impairs extracellular matrix homeostasisSilvia Morlino, Annalucia Carbone, Marco Ritelli, et al.Human Mutation|June 20, 2019
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humansTimothy C Cox, Andrew C Lidral, Jason C McCoy, et al.Human Mutation|June 25, 2019
Contribution of functionally assessed GHRHR mutations to idiopathic isolated growth hormone deficiency in patients without GH1 mutationsEnzo Cohen, Sabrina Belkacem, Soumeya Fedala, et al.Pageof 583