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Updated: Jan 25, 2026

07:15
Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
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Incomplete Mass Phenotype: Description of a New Pathogenic Variant of the Fibrillin-1 Gene
Jesús Piqueras-Flores1, Juan Pablo Trujillo-Quintero2, Raquel Frías-García3
1Servicio de Cardiología, Hospital General Universitario de Ciudad Real, Ciudad Real, Spain; Unidad de Cardiopatías Familiares y Muerte Súbita, Hospital General Universitario de Ciudad Real, Ciudad Real, Spain.
Revista Espanola De Cardiologia (English Ed.)
|May 5, 2019
Abstract
No abstract available in PubMed .
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