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Clinical,radiological and computational studies on two novel GNPTG variants causing mucolipidosis III gamma phenotypes with varying severity |
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| Authors: | Doğan Mustafa Eröz Recep Terali Kerem Gezdirici Alper Bolu Semih |
| Affiliation: | 1.Department of Medical Genetics, Malatya Turgut Ozal University Training and Research Hospital, Malatya, Turkey ;2.Department of Medical Genetics, Faculty of Medicine, Düzce University, Düzce, Turkey ;3.Department of Medical Biochemistry, Faculty of Medicine, Near East University, Nicosia, Cyprus ;4.Bioinformatics and Computational Biology Research Group, DESAM Institute, Near East University, Nicosia, Cyprus ;5.Department of Medical Genetics, Basaksehir Cam and Sakura City Hospital, 34480, Istanbul, Turkey ;6.Department of Pediatric Endocrinology, Ad?yaman Training and Research Hospital, Ad?yaman, Turkey ; |
| Abstract: | Molecular Biology Reports - Mucolipidosis III gamma (ML III γ) is a slowly progressive disorder that affects multiple parts of the body such as the skeleton, joints, and connective tissue... |
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