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Title:The quality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing
Authors:ID Slapnik, Barbara (Author)
ID Šket, Robert (Author)
ID Črepinšek, Klementina (Author)
ID Tesovnik, Tine (Author)
ID Jenko Bizjan, Barbara (Author)
ID Kovač, Jernej (Corresponding author)
Files:.pdf PDF - Presentation file, download (3,44 MB)
MD5: DEA586F2409CA6042F756B41976A1944
 
URL URL - Source URL, visit https://www.nature.com/articles/s41598-024-78270-0
 
Language:English
Typology:1.01 - Original Scientific Article
Organization:Logo UKC LJ - Ljubljana University Medical Centre
Keywords:mtDNA, heteroplasmy, mitochondrial disease
Publication status:Published
Publication version:Version of Record
Year of publishing:2024
Number of pages:str. 1-12
Numbering:Vol. 14
PID:20.500.12556/DiRROS-24581 New window
UDC:61
ISSN on article:2045-2322
DOI:10.1038/s41598-024-78270-0 New window
COBISS.SI-ID:218515971 New window
Note:Nasl. z nasl. zaslona; Opis vira z dne 11. 12. 2024;
Publication date in DiRROS:08.12.2025
Views:93
Downloads:51
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Record is a part of a journal

Title:Scientific reports
Shortened title:Sci. rep.
Publisher:Nature Publishing Group
ISSN:2045-2322
COBISS.SI-ID:18727432 New window

Document is financed by a project

Funder:Other - Other funder or multiple funders
Funding programme:Univerzitetni klinični center Ljubljana
Project number:20210119
Name:Uporaba visokogostonih multiomskih podatkov pri diagnostiki nepojasnjenih redkih bolezni pri otrocih in mladostnikih

Funder:ARIS - Slovenian Research and Innovation Agency
Project number:J3-50122-2023
Name:Genomsko presejanje novorojenčkov

Licences

License:CC BY-NC-ND 4.0, Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International
Link:http://creativecommons.org/licenses/by-nc-nd/4.0/
Description:The most restrictive Creative Commons license. This only allows people to download and share the work for no commercial gain and for no other purposes.

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