Associated Papers
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.
Cao W et al.
Bmj Open Ophthalmology, 2018
TCIRG1-dependent recessive osteopetrosis: mutation analysis, functional identification of the splicing defects, and in vitro rescue by U1 snRNA.
Susani L et al.
Human Mutation, 2004
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