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American Journal of Physiology. Cell Physiology|August 10, 2007
Polyamine homeostasis in arginase knockout miceJoshua L Deignan, Justin C Livesay, Lisa M Shantz, et al.Genetic Testing|October 6, 2006
Monitoring standards for molecular genetic testing in the United Kingdom, the Netherlands, and IrelandSimon C Ramsden, Zandra Deans, David O Robinson, et al.Journal of Hematopathology|August 12, 2009
Systemic mastocytosis associated with t(8;21)(q22;q22) acute myeloid leukemiaSheeja T Pullarkat, Vinod Pullarkat, Steven H Kroft, et al.Molecular Genetics and Metabolism|June 27, 2002
Expression of the liver form of arginase in erythrocytesPhillip S Kim, Ramaswamy K Iyer, Kan V Lu, et al.Molecular Therapy : the Journal of the American Society of Gene Therapy|June 4, 2014
Myocyte-mediated arginase expression controls hyperargininemia but not hyperammonemia in arginase-deficient miceChuhong Hu, Jennifer Kasten, Hana Park, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 6, 2015
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologySue Richards, Nazneen Aziz, Sherri Bale, et al.Medrxiv : the Preprint Server for Health Sciences|March 17, 2025
New Gain-of-Function Mutations Prioritize Mechanisms of HER2 ActivationChristopher J Giacoletto, Liz J Valente, Lancer Brown, et al.Human Biology|August 29, 2003
Cystic fibrosis mutations in Costa RicaPatricia B Venegas, Jessica M Novak, Castro A Oscar, et al.New Biotechnology|December 25, 2025
The GigaAssay: A combined high throughput and highly accurate platform for variant classificationChristopher J Giacoletto, Liz J Valente, Lancer Brown, et al.Genomics|October 4, 2025
High-throughput characterization of 5886 HER2 variants identifies 112 new in cellulo gain-of-function mutationsChristopher J Giacoletto, Liz J Valente, Lancer Brown, et al.Pageof 11