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Human Mutation|October 16, 2009
Identification of novel truncated androgen receptor (AR) mutants including unreported pre-mRNA splicing variants in the 22Rv1 hormone-refractory prostate cancer (PCa) cell lineGemma Marcias, Eva Erdmann, Gaëlle Lapouge, et al.Human Mutation|March 7, 2014
Mutations in the human UBR1 gene and the associated phenotypic spectrumMaja Sukalo, Ariane Fiedler, Celina Guzmán, et al.Human Mutation|April 14, 2017
Whole-protein alanine-scanning mutagenesis of allostery: A large percentage of a protein can contribute to mechanismQingling Tang, Aron W FentonHuman Mutation|April 12, 2017
Genetic variants in microRNAs and their binding sites within gene 3'UTRs associate with susceptibility to age-related macular degenerationMohsen Ghanbari, Stefan J Erkeland, Lei Xu, et al.Human Mutation|April 12, 2017
Lessons from the CAGI-4 Hopkins clinical panel challengeJohn-Marc Chandonia, Aashish Adhikari, Marco Carraro, et al.Human Mutation|April 4, 2017
Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsyPraveen K Raju, Parthasarathy Satishchandra, Sourav Nayak, et al.Human Mutation|June 4, 2008
Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsiaPeggy Reuter, Katja Koeppen, Thomas Ladewig, et al.Human Mutation|June 12, 2008
Mutations in TREM2 lead to pure early-onset dementia without bone cystsEliane Chouery, Valérie Delague, Anne Bergougnoux, et al.Human Mutation|April 17, 2008
A novel mutation in NFKBIA/IKBA results in a degradation-resistant N-truncated protein and is associated with ectodermal dysplasia with immunodeficiencyEduardo Lopez-Granados, Jeffrey E Keenan, Matthew C Kinney, et al.Human Mutation|April 26, 2008
PROS1 analysis in 87 pedigrees with hereditary protein S deficiency demonstrates striking genotype-phenotype associationsMin Ki Ten Kate, Mathieu Platteel, Rene Mulder, et al.Pageof 583