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Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report Cover

Value of Optical Genome Mapping (OGM) for Diagnostics of Rare Diseases: A Family Case Report

Balkan Journal of Medical Genetics
Volume 27 (2024): Issue 2 (December 2024)
By:
Open Access
|Mar 2025

References

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DOI: https://doi.org/10.2478/bjmg-2024-0021 | Journal eISSN: 2199-5761
Journal RSS Feed
Language: English
Page range: 87 - 93
Published on: Mar 6, 2025
Published by: Macedonian Academy of Sciences and Arts
In partnership with: Paradigm Publishing Services
Publication frequency: 2 times per year
Keywords:
Optical genome mapping,
OGM,
structural variants (SV),
genomic variants,
rare disease genetic testing
Related subjects:
Medicine,
Basic medical science,
Basic medical science, other

© 2025 A Kovanda, O Miljanović, L Lovrečić, A Maver, A Hodžić, B Peterlin, published by Macedonian Academy of Sciences and Arts
This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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