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

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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

Authors

S. Atemin

slavena_tsaneva@abv.bg

Department of Medical Chemistry and Biochemistry, Medical University – Sofia, Bulgaria

Genetic Medico-Diagnostic Laboratory “Genica” – Sofia, Bulgaria

T. Todorov

Genetic Medico-Diagnostic Laboratory “Genica” – Sofia, Bulgaria

I. Tourtourikov

Department of Medical Chemistry and Biochemistry, Medical University – Sofia, Bulgaria

Genetic Medico-Diagnostic Laboratory “Genica” – Sofia, Bulgaria

V. Mitev

Department of Medical Chemistry and Biochemistry, Medical University – Sofia, Bulgaria

A. Todorova

Department of Medical Chemistry and Biochemistry, Medical University – Sofia, Bulgaria

Genetic Medico-Diagnostic Laboratory “Genica” – Sofia, Bulgaria

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:

novel variants,

whole exome sequencing,

Related subjects:

Basic medical science,

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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