Article

Two recurrent pathogenic/likely pathogenic variants in PALB2 account for almost half of PALB2 positive families in Slovenia

2024-07-08

Abstract excerpt

<title>Abstract</title> <p><italic>Introduction</italic>: The prevalence and spectrum of <italic>PALB2</italic> pathogenic/likely pathogenic variants (PV/LPVs) may vary across different regions, and these have not yet been analysed and reported in Slovenian HBOC families. <italic>Methods</italic>: We performed a retrospective analysis of all 5099 consecutively tested individuals from 4610 families who fulfilled n...

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Literature Corpus work: 1534154a-e941-5394-83a3-f9106e26e3f1
DOI: 10.21203/rs.3.rs-4569442/v1

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Two recurrent pathogenic/likely pathogenic variants in PALB2 account for almost half of PALB2 positive families in SloveniaDOI 10.21203/rs.3.rs-4569442/v1Read

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