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

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

BackgroundThe 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 with...

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Bibliographic Details
Main Authors: Rosa Sonja Alesci, Carola Hecking, Benjamin Racké, Detlev Janssen, Carl-Erik Dempfle
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-07-01
Series:Frontiers in Medicine
Subjects:
FVII deficiency
genotype
phenotype
ACMG classification
genetic variations
Online Access:https://www.frontiersin.org/articles/10.3389/fmed.2023.1220813/full

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https://www.frontiersin.org/articles/10.3389/fmed.2023.1220813/full

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