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...

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Detalles Bibliográficos
Autores principales: Lunghi, Barbara, Ziliotto, Nicole, Balestra, Dario, Rossi, Lucrezia, Della Valle, Patrizia, Pignatelli, Pasquale, Pinotti, Mirko, D’Angelo, Armando, Marchetti, Giovanna, Bernardi, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
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

Internet

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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