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Title:Two recurrent pathogenic/likely pathogenic variants in PALB2 account for half of PALB2 positive families in Slovenia
Authors:ID Mesarič, Vita Andreja (Author)
ID Blatnik, Ana (Author)
ID Drusany Starič, Kristina (Author)
ID Strojnik, Ksenija (Author)
ID Stegel, Vida (Author)
ID Hotujec, Simona (Author)
ID Šetrajčič Dragoš, Vita (Author)
ID Škerl, Petra (Author)
ID Novaković, Srdjan (Author)
ID Krajc, Mateja (Author)
Files:.pdf PDF - Presentation file, download (1,33 MB)
MD5: ED5D7C16EEE337CE87770653C48623A4
 
URL URL - Source URL, visit https://link.springer.com/article/10.1186/s40246-024-00706-5
 
Language:English
Typology:1.01 - Original Scientific Article
Organization:Logo UKC LJ - Ljubljana University Medical Centre
Keywords:breast and ovarian cancer syndrome, HBOC syndrome, multigene panel testing
Publication status:Published
Publication version:Version of Record
Year of publishing:2024
Number of pages:str. 1-9
Numbering:Vol. 18, iss. 1, ǂarticle no. ǂ137
PID:20.500.12556/DiRROS-29936 New window
UDC:575:61
ISSN on article:1479-7364
DOI:10.1186/s40246-024-00706-5 New window
COBISS.SI-ID:220464899 New window
Note:Nasl. z nasl. zaslona; Opis vira z dne 25. 12. 2024;
Publication date in DiRROS:09.06.2026
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Downloads:54
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Record is a part of a journal

Title:Human genomics
Shortened title:Hum. genomics
Publisher:Henry Stewart Publications
ISSN:1479-7364
COBISS.SI-ID:521790745 New window

Document is financed by a project

Funder:ARIS - Slovenian Research and Innovation Agency
Project number:P3-0289-2019
Name:Značilnosti malignih neoplazem, pomembne za diagnozo ter napoved poteka bolezni in izida zdravljenja

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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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