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Human Mutation|March 17, 2012
Representation of rare diseases in health information systems: the Orphanet approach to serve a wide range of end usersAna Rath, Annie Olry, Ferdinand Dhombres, et al.Human Mutation|December 17, 2015
Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria PatientsValentin Vautrot, Christelle Aigueperse, Florence Oillo-Blanloeil, et al.Human Mutation|February 19, 2016
Understanding the Pathogenicity of Noncoding Mismatch Repair Gene Promoter Variants in Lynch SyndromeQing Liu, Bryony A Thompson, Robyn L Ward, et al.Human Mutation|November 26, 2015
Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6Wanqiong Qiao, Yao Yang, Robert Sebra, et al.Human Mutation|November 12, 2015
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVsXiaoming Liu, Chunlei Wu, Chang Li, et al.Human Mutation|August 23, 2014
Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structureSofie Symoens, David J S Hulmes, Jean-Marie Bourhis, et al.Human Mutation|August 23, 2014
An efficient pipeline for the generation and functional analysis of human BRCA2 variants of uncertain significanceGiel Hendriks, Bruno Morolli, Fabienne M G R Calléja, et al.Human Mutation|December 21, 2013
Increased dosage of RAB39B affects neuronal development and could explain the cognitive impairment in male patients with distal Xq28 copy number gainsLieselot Vanmarsenille, Maila Giannandrea, Nathalie Fieremans, et al.Human Mutation|December 20, 2013
Gender and cell-type-specific effects of the transcription-coupled repair protein, ERCC6/CSB, on repeat expansion in a mouse model of the fragile X-related disordersXiao-Nan Zhao, Karen UsdinHuman Mutation|December 17, 2013
Insight into IKBKG/NEMO locus: report of new mutations and complex genomic rearrangements leading to incontinentia pigmenti diseaseMatilde Immacolata Conte, Alessandra Pescatore, Mariateresa Paciolla, et al.Pageof 583