Utility of ACMG classification to support interpretation of molecular genetic test results in patients with factor VII deficiency

BACKGROUND: The American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) have introduced an internationally shared framework for variant classification in genetic disorders. FVII deficiency is a rare inherited autosomal recessive bleeding disorder wi...

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Detalles Bibliográficos
Autores principales: Alesci, Rosa Sonja, Hecking, Carola, Racké, Benjamin, Janssen, Detlev, Dempfle, Carl-Erik
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Medicine
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382174/
https://www.ncbi.nlm.nih.gov/pubmed/37521340
http://dx.doi.org/10.3389/fmed.2023.1220813

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10382174/
https://www.ncbi.nlm.nih.gov/pubmed/37521340
http://dx.doi.org/10.3389/fmed.2023.1220813

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