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Fig. 1 | BMC Pediatrics

Fig. 1

From: Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report

Fig. 1

The pathogenesis mechanism of infantile malignant osteopetrosis. A. The mutation site in TCIRG1 homologous model. The overall protein VPP3 structure is shown in rainbow color. The transmembrane-helical structure is shown in black flat line. The specific residue and substitution are shown as sticks. B. The assumed intracellular process of infantile malignant osteopetrosis via TCIRG1 mutation in osteoclast

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