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Article

Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.

Journal of vascular surgery - 1 Mar 2018

Mattassi Raul, Manara Elena, Colombo Pier Giuseppe, Manara Sofia, Porcella Antonella, Bruno Giulia, Bruson Alice, Bertelli Matteo

Abstract excerpt

OBJECTIVE: An accurate "molecular" diagnosis and classification of similar but distinct diseases is sometime challenging but often crucial for the definition of the appropriate patient medical management and treatment as well as for genetic counseling and risk assessment in families. The advent of next-generation sequencing (NGS), which analysed all known disease-associated genes in parallel in a cost- and...

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Identifiers

PMID: 28655553
DOI: 10.1016/j.jvs.2017.02.034

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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