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Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the NARS1 Gene Cover

Neurodevelopmental Disorder in a Bulgarian Patient Caused By Novel Mutations in the NARS1 Gene

Acta Medica Bulgarica
Volume 49 (2022): Issue 2 (June 2022)
By: S. Atemin,  T. Todorov,  I. Tourtourikov,  V. Mitev and  A. Todorova  
Open Access
|Jul 2022

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DOI: https://doi.org/10.2478/amb-2022-0020 | Journal eISSN: 2719-5384 | Journal ISSN: 0324-1750
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Language: English
Page range: 48 - 50
Submitted on: Mar 3, 2022
Accepted on: Mar 31, 2022
Published on: Jul 11, 2022
Published by: Sofia Medical University
In partnership with: Paradigm Publishing Services
Publication frequency: 4 issues per year
Keywords:
NARS1 gene,
novel variants,
whole exome sequencing,
epilepsy
Related subjects:
Medicine,
Basic medical science,
Immunology,
Clinical medicine,
Clinical medicine, other

© 2022 S. Atemin, T. Todorov, I. Tourtourikov, V. Mitev, A. Todorova, published by Sofia Medical University
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 License.

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