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2. TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA. Susani L; Pangrazio A; Sobacchi C; Taranta A; Mortier G; Savarirayan R; Villa A; Orchard P; Vezzoni P; Albertini A; Frattini A; Pagani F Hum Mutat; 2004 Sep; 24(3):225-35. PubMed ID: 15300850 [TBL] [Abstract][Full Text] [Related]
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