Associated Papers
Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis.
Zirngibl RA et al.
Journal of Cellular Biochemistry, 2019
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.
Cao W et al.
Bmj Open Ophthalmology, 2018
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