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Article

A rapid scoring tool to assess mutation probability in patients with inherited cardiac disorders.

European journal of medical genetics - 1 Feb 2018

Zentner Dominica, Thompson Tina, Taylor Jessica, Bogwitz Michael, Trainer Alison, Vohra Jitendra, Winship Ingrid, James Paul A

Abstract excerpt

AIMS: To explore clinical features and relationship with positive mutation ascertainment in inherited heart diseases in order to develop a clinical tool to assist identification of individuals in whom to offer genetic testing. A clinical tool that increases pre test probability of mutation detection would have the benefits of improving patient counselling, prioritising cases for MPS and allowing equity in...

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PMID: 29102761
DOI: 10.1016/j.ejmg.2017.10.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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