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Human Mutation|August 26, 1998
V2 vasopressin receptor dysfunction in nephrogenic diabetes insipidus caused by different molecular mechanismsT Schöneberg, A Schulz, H Biebermann, et al.Human Mutation|July 25, 2012
CNVD: text mining-based copy number variation in disease databaseFujun Qiu, Yan Xu, Kening Li, et al.Human Mutation|August 14, 2012
Investigation of the relationship between prostate cancer and MSMB and NCOA4 genetic variants and protein expressionLiesel M FitzGerald, Xiaotun Zhang, Suzanne Kolb, et al.Human Mutation|July 4, 2014
Destruction of DDIT3/CHOP protein by wild-type SPOP but not prostate cancer-associated mutantsPingzhao Zhang, Kun Gao, Yan Tang, et al.Human Mutation|June 12, 2014
Majority vote and other problems when using computational toolsMauno VihinenHuman Mutation|September 1, 2012
General olfactory sensitivity database (GOSdb): candidate genes and their genomic variationsIfat Keydar, Edna Ben-Asher, Ester Feldmesser, et al.Human Mutation|August 29, 2012
Genetic variant on PDGFRL associated with Behçet disease in Chinese Han populationsShengping Hou, Xiang Xiao, Yan Zhou, et al.Human Mutation|August 21, 2012
VariBench: a benchmark database for variationsPreethy Sasidharan Nair, Mauno VihinenHuman Mutation|July 4, 2012
Validation of a quantitative PCR-high-resolution melting protocol for simultaneous screening of COL1A1 and COL1A2 point mutations and large rearrangements: application for diagnosis of osteogenesis imperfectaFilomena Valentina Gentile, Monia Zuntini, Alessandro Parra, et al.Human Mutation|July 4, 2012
A guide for functional analysis of BRCA1 variants of uncertain significanceGaël A Millot, Marcelo A Carvalho, Sandrine M Caputo, et al.Pageof 578