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Whole-Exome Sequencing in a Family with an Unexplained Tendency for Venous Thromboembolism: Multicomponent Prediction of Low-Frequency Variant Deleteriousness and of Individual Protein Interaction
Whole-exome sequencing (WES) in families with an unexplained tendency for venous thromboembolism (VTE) may favor detection of low-frequency variants in genes with known contribution to hemostasis or associated with VTE-related phenotypes. WES analysis in six family members, three of whom affected by...
Autores principales: | Lunghi, Barbara, Ziliotto, Nicole, Balestra, Dario, Rossi, Lucrezia, Della Valle, Patrizia, Pignatelli, Pasquale, Pinotti, Mirko, D’Angelo, Armando, Marchetti, Giovanna, Bernardi, Francesco |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10530467/ https://www.ncbi.nlm.nih.gov/pubmed/37762110 http://dx.doi.org/10.3390/ijms241813809 |
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