PALB2中两种复发致病性/可能致病性变异占斯洛文尼亚PALB2阳性家庭的一半。

IF 3.8 3区医学 Q2 GENETICS & HEREDITY Human Genomics Pub Date : 2024-12-18 DOI:10.1186/s40246-024-00706-5

Vita Andreja Mesarič, Ana Blatnik, Kristina Drusany Starič, Ksenija Strojnik, Vida Stegel, Simona Hotujec, Vita Šetrajčič Dragoš, Petra Škerl, Srdjan Novaković, Mateja Krajc

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

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来源期刊

Human Genomics GENETICS & HEREDITY-

CiteScore

6.00

自引率

2.20%

发文量

审稿时长

11 weeks

期刊介绍： Human Genomics is a peer-reviewed, open access, online journal that focuses on the application of genomic analysis in all aspects of human health and disease, as well as genomic analysis of drug efficacy and safety, and comparative genomics. Topics covered by the journal include, but are not limited to: pharmacogenomics, genome-wide association studies, genome-wide sequencing, exome sequencing, next-generation deep-sequencing, functional genomics, epigenomics, translational genomics, expression profiling, proteomics, bioinformatics, animal models, statistical genetics, genetic epidemiology, human population genetics and comparative genomics.

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