Case report: Gene mutations and clinical characteristics of four patients with osteopetrosis by Yu Chen, Yu Chen, Lina Zhou, Xianmin Guan, Xianhao Wen, Jie Yu, Ying Dou, Ying Dou

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Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family by Ajmal, Muhammad, Mir, Asif, Wahid, Sughra, Khor, Chiea Chuen, Foo, Jia Nee, Siddiqi, Saima, Kauser, Mehran, Malik, Salman Akbar, Nasir, Muhammad

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Genetic analysis of osteopetrosis in Pakistani families identifies novel and known sequence variants by Chunyu Liu, Muhammad Ajmal, Zaineb Akram, Tariq Ghafoor, Muhammad Farhan, Sobia Shafique, Sughra Wahid, Shahar Bano, Jianqiu Xiao, Humayoon Shafique Satti, Feng Zhang, Tahir Naeem Khan

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Two novel mutations in TCIRG1 induced infantile malignant osteopetrosis: a case report by Ping Wu, Zhe Cai, Wen-Hui Jiang, Gen Lu, Pei-Qiong Wu, Zhi-Wei Xie, Jun-Zheng Peng, Chen Chen, Jun-Ye Qi, Li-Zhen Xu, Kun-Ling Shen, Hua-Song Zeng, Gen-Quan Yin

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Diagnosis: Infantile Malign Osteopetrosis by Sevgin Taner, Ali Fettah, Neşe Yaralı, Sevde Seçer, Özge Ağlamıs, Bahattin Tunç

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Infantile malignant osteopetrosis caused by a new mutation of TCIRG1 gene： a case report by Pan Liangwu, Yang Que, Chen Han, Huang Huarong, Wu Baojing

Subjects: “…|infantile malignant osteopetrosis|tcirg1 gene|homozygous mutations|imaging examination…”
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三个石骨症致病基因内的新突变及其基因型－表型

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Identification of new mutations in TCIRG1 as a cause of infantile malignant osteopetrosis in two Mexican patients by Claudia Hernández-Martínez, Mara Noemí Guzmán-Martínez, Selma Scheffler-Mendoza, Sara Elva Espinosa-Padilla, Cristina Sobacchi, Lizbeth Blancas-Galicia

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Clinical and molecular characterization of five Chinese patients with autosomal recessive osteopetrosis by Huanhuan Liang, Niu Li, Ru‐en Yao, Tingting Yu, Lixia Ding, Jing Chen, Jian Wang

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Glycolysis-related biomarker TCIRG1 participates in regulation of renal cell carcinoma progression and tumor immune microenvironment by affecting aerobic glycolysis and AKT/mTOR si... by Sichen Di, Min Gong, Jianmin Lv, Qiwei Yang, Ye Sun, Yijun Tian, Cheng Qian, Wenjin Chen, Wang Zhou, Keqin Dong, Xiaokai Shi, Yuning Wang, Hongru Wang, Jian Chu, Sishun Gan, Xiuwu Pan, Xingang Cui

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Unusual Cortical Phenotype After Hematopoietic Stem Cell Transplantation in a Patient With Osteopetrosis by Sonia Afshariyamchlou, Michelle Ng, Asmaa Ferdjallah, Stuart J. Warden, Paul Niziolek, Imranul Alam, Lynda E. Polgreen, Erik A. Imel, Paul Orchard, Michael J. Econs

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Identification of Prognostic and Metastatic Alternative Splicing Signatures in Kidney Renal Clear Cell Carcinoma by Tong Meng, Tong Meng, Tong Meng, Runzhi Huang, Runzhi Huang, Zhiwei Zeng, Zongqiang Huang, Huabin Yin, ChenChen Jiao, Penghui Yan, Peng Hu, Xiaolong Zhu, Zhenyu Li, Dianwen Song, Jie Zhang, Jie Zhang, Jie Zhang, Liming Cheng, Liming Cheng

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Identification and in silico characterization of a novel p.P208PfsX1 mutation in V-ATPase a3 subunit associated with autosomal recessive osteopetrosis in a Pakistani family by Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik, Muhammad Nasir

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Novel Disease-Associated Missense Single-Nucleotide Polymorphisms Variants Predication by Algorithms Tools and Molecular Dynamics Simulation of Human TCIRG1 Gene Causing Congenital... by Khyber Shinwari, Hafiz Muzzammel Rehman, Hafiz Muzzammel Rehman, Guojun Liu, Mikhail A. Bolkov, Mikhail A. Bolkov, Irina A. Tuzankina, Irina A. Tuzankina, Valery. A. Chereshnev, Valery. A. Chereshnev

Subjects: “…TCIRG1 gene mutation…”
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The Vacuolar H⁺ ATPase α3 Subunit Negatively Regulates Migration and Invasion of Human Pancreatic Ductal Adenocarcinoma Cells by Mette Flinck, Sofie Hagelund, Andrej Gorbatenko, Marc Severin, Elena Pedraz-Cuesta, Ivana Novak, Christian Stock, Stine Falsig Pedersen

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Osteopetrosis complicated by multilevel spondylolysis by William W. Pryor, III, MD, Carolina V. Guimaraes, MD, Lane F. Donnelly, MD

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