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Human Mutation|October 12, 2013
Genetic basis of congenital erythrocytosis: mutation update and online databasesCeleste Bento, Melanie J Percy, Betty Gardie, et al.Human Mutation|October 12, 2013
Congenital heart defects in patients with deletions upstream of SOX9Marta Sanchez-Castro, Christopher T Gordon, Florence Petit, et al.Human Mutation|October 12, 2013
Targeted deep resequencing identifies MID2 mutation for X-linked intellectual disability with varied disease severity in a large kindred from IndiaThenral S Geetha, Kulandaimanuvel Antony Michealraj, Madhulika Kabra, et al.Human Mutation|July 3, 2013
The syndrome of microcornea, myopic chorioretinal atrophy, and telecanthus (MMCAT) is caused by mutations in ADAMTS18Mohammed A Aldahmesh, Muneera J Alshammari, Arif O Khan, et al.Human Mutation|July 19, 2013
IL-12Rβ1 deficiency: mutation update and description of the IL12RB1 variation databaseEsther van de Vosse, Margje H Haverkamp, Noe Ramirez-Alejo, et al.Human Mutation|July 24, 2013
Recurrent HERV-H-mediated 3q13.2-q13.31 deletions cause a syndrome of hypotonia and motor, language, and cognitive delaysAndrey Shuvarikov, Ian M Campbell, Piotr Dittwald, et al.Human Mutation|July 12, 2013
dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotationsXiaoming Liu, Xueqiu Jian, Eric BoerwinkleHuman Mutation|March 15, 2012
Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in EuropeJustin P Rubio, Simon Topp, Liling Warren, et al.Human Mutation|March 15, 2012
Integration of global resources for human genetic variation and diseasePaul N Schofield, John M HancockHuman Mutation|March 17, 2012
Mouse genetic and phenotypic resources for human geneticsPaul N Schofield, Robert Hoehndorf, Georgios V GkoutosPageof 583