Video Experimental Relacionado

Updated: Jun 21, 2026

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
10:17

An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations

Published on: November 3, 2010

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Un ensayo celular preciso para determinar la patogenicidad de variantes codificantes y no codificantes en genes del

Iris E Glykofridis1, Marleen Dekker1, Chantal Stoepker1

  • 1Division of Tumor Biology and Immunology, The Netherlands Cancer Institute, Amsterdam 1066 CX, The Netherlands.

Proceedings of the National Academy of Sciences of the United States of America
|January 16, 2026
PubMed
Resumen

El diagnóstico del síndrome de Lynch mejora con un nuevo ensayo que clasifica con precisión variantes genéticas de significado incierto en genes de reparación de desajustes de ADN. Esta prueba funcional ayuda a la vigilancia personalizada del cáncer para las familias afectadas.

Palabras clave:
reparación de desajustes de ADNsíndrome de LynchVUSensayo funcional

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