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Human Mutation|May 21, 2019
Functional analysis of new variants at the low-density lipoprotein receptor associated with familial hypercholesterolemiaCarmen Rodríguez-Jiménez, Olga Pernía, Jose Mostaza, et al.Human Mutation|June 5, 2010
KvDB; mining and mapping sequence variants in voltage-gated potassium channelsLucy F Stead, Ian C Wood, David R WestheadHuman Mutation|July 3, 2010
The association of telomere length and genetic variation in telomere biology genesLisa Mirabello, Kai Yu, Peter Kraft, et al.Human Mutation|October 28, 2010
Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10Karin Frank-Raue, Lisa A Rybicki, Zoran Erlic, et al.Human Mutation|October 16, 2010
D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK)Jörn Oliver Sass, Kathleen Fischer, Raymond Wang, et al.Human Mutation|October 16, 2010
Germline KRAS mutations cause aberrant biochemical and physical properties leading to developmental disordersLothar Gremer, Torsten Merbitz-Zahradnik, Radovan Dvorsky, et al.Human Mutation|September 18, 2010
Identification of FOXP1 deletions in three unrelated patients with mental retardation and significant speech and language deficitsDenise Horn, Johannes Kapeller, Núria Rivera-Brugués, et al.Human Mutation|July 17, 2010
Transcriptional and translational effects of intronic CAPN3 gene mutationsAnna Chiara Nascimbeni, Marina Fanin, Elisabetta Tasca, et al.Human Mutation|July 17, 2010
Congenital insensitivity to pain: novel SCN9A missense and in-frame deletion mutationsJames J Cox, Jony Sheynin, Zamir Shorer, et al.Human Mutation|August 5, 2010
Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesFrauke Coppieters, Ingele Casteels, Françoise Meire, et al.Pageof 583