Associated Papers
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
35314707 (PubMed )
Supplement: 41525_2022_287_MOESM3_ESM.xlsx › SNV
Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis.
Liang H et al.
Molecular Genetics & Genomic Medicine, 2021
Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.
Wu P et al.
Bmc Pediatrics, 2021
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.
Cao W et al.
Bmj Open Ophthalmology, 2018
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