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Human Mutation|December 5, 2013
Retinitis pigmentosa mutations of SNRNP200 enhance cryptic splice-site recognitionZuzana Cvačková, Daniel Matějů, David StaněkHuman Mutation|November 2, 2013
A 129-kb deletion on chromosome 12 confers substantial protection against rheumatoid arthritis, implicating the gene SLC2A3Colin D Veal, Katherine E Reekie, Johnny C Lorentzen, et al.Human Mutation|November 2, 2013
Distinct patterns of genetic variations in potential functional elements in long noncoding RNAsDeeksha Bhartiya, Saakshi Jalali, Sourav Ghosh, et al.Human Mutation|August 20, 2014
A Novel SHOC2 Variant in RasopathyVickie Hannig, Myoungkun Jeoung, Eun Ryoung Jang, et al.Human Mutation|August 20, 2014
Impaired development of neural-crest cell-derived organs and intellectual disability caused by MED13L haploinsufficiencyKagistia Hana Utami, Cecilia Lanny Winata, Axel M Hillmer, et al.Human Mutation|August 10, 2013
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeastEnrico Baruffini, Cristina Dallabona, Federica Invernizzi, et al.Human Mutation|September 13, 2013
Two novel mutations in ABHD12: expansion of the mutation spectrum in PHARC and assessment of their functional effectsDong-Hui Chen, Alipi Naydenov, Jacqueline L Blankman, et al.Human Mutation|September 4, 2013
Hypomorphic NOTCH3 alleles do not cause CADASIL in humansJulie W Rutten, Elles M J Boon, Michael K Liem, et al.Human Mutation|September 4, 2013
GATA4 loss-of-function mutations underlie familial tetralogy of fallotYi-Qing Yang, Lara Gharibeh, Ruo-Gu Li, et al.Human Mutation|August 6, 2013
Characterization of variants in the glucosylceramide synthase gene and their association with type 1 Gaucher disease severityPilar Alfonso, Joaquín Navascués, Silvia Navarro, et al.Pageof 583