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Article

Evaluating the quality of Marfan genotype-phenotype correlations in existing FBN1 databases.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Jul 2017

Groth Kristian A, Von Kodolitsch Yskert, Kutsche Kerstin, Gaustadnes Mette, Thorsen Kasper, Andersen Niels H, Gravholt Claus H

Abstract excerpt

BACKGROUND: Genetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. In an effort to evaluate variant causality, FBN1 databases are often used. We evaluated the current databases regarding FBN1 variants and validated associated phenotype records with a new Marfan syndrome geno-phenotyping tool called the Marfan score. METHODS AND RESULTS: We evaluated four databases (UMD-FBN1,...

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Identifiers

PMID: 27906200
DOI: 10.1038/gim.2016.181

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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