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Human Mutation|July 15, 2018
Heterozygous missense mutations in NFATC1 are associated with atrioventricular septal defectRosangela Ferese, Monica Bonetti, Federica Consoli, et al.European Journal of Human Genetics : EJHG|November 6, 2014
p.Arg1809Cys substitution in neurofibromin is associated with a distinctive NF1 phenotype without neurofibromasValentina Pinna, Valentina Lanari, Paola Daniele, et al.Pageof 5