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Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
Open Access
de novo TINF2
C.845G>A: Pathogenic Variant in Patient with Dyskeratosis Congenita
SA Kocheva
SA Kocheva
Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine
Skopje, North Macedonia
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Kocheva, SA
,
M Gjorgjievska
M Gjorgjievska
Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts
Skopje, North Macedonia
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Gjorgjievska, M
,
K Martinova
K Martinova
Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine
Skopje, North Macedonia
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Martinova, K
,
Z Antevska-Trajkova
Z Antevska-Trajkova
Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine
Skopje, North Macedonia
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Antevska-Trajkova, Z
,
A Jovanovska
A Jovanovska
Pediatric Clinic for Children's Diseases, Ss. Cyril and Methodius University in Skopje, Faculty of Medicine
Skopje, North Macedonia
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Jovanovska, A
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D Plaseska-Karanfilska
D Plaseska-Karanfilska
Research Centre for Genetic Engineering and Biotechnology “Georgi D. Efremov”, Macedonian Academy of Sciences and Arts
Skopje, North Macedonia
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Plaseska-Karanfilska, D
Jun 05, 2022
Balkan Journal of Medical Genetics
Volume 24 (2021): Issue 2 (November 2021)
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Article Category:
Case Report
Published Online:
Jun 05, 2022
Page range:
89 - 93
DOI:
https://doi.org/10.2478/bjmg-2021-0027
Keywords
gene mutation
,
Aplastic anemia
,
DC
© 2021 SA Kocheva et al., published by Sciendo
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.
