Associated Papers
Molecular Heterogeneity of Osteopetrosis in India: Report of 17 Novel Variants.
Arunachalam AK et al.
Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024
Outlining the Clinical Profile of TCIRG1 14 Variants including 5 Novels with Overview of ARO Phenotype and Ethnic Impact in 20 Egyptian Families.
El-Kamah GY et al.
Genes, 2023
Novel Disease-Associated Missense Single-Nucleotide Polymorphisms Variants Predication by Algorithms Tools and Molecular Dynamics Simulation of Human TCIRG1 Gene Causing Congenital Neutropenia and Osteopetrosis.
Shinwari K et al.
Frontiers in Molecular Biosciences, 2022
Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report.
Wu P et al.
Bmc Pediatrics, 2021
TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis.
Koçak G et al.
Gene, 2019
Ophthalmic phenotype of TCIRG1 gene mutations in Chinese infantile malignant osteopetrosis.
Cao W et al.
Bmj Open Ophthalmology, 2018
[Analysis of TCIRG1 gene mutation in a Chinese family affected with infantile malignant osteopetrosis].
Wang M et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2017
Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications.
Pangrazio A et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2012
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