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Study of the impact of ClinGen Revisions on ACMG/AMP vari... | ResearchHub
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Study of the impact of ClinGen Revisions on ACMG/AMP variant semi-automatic classification for Rare Diseases diagnosis
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Authors
Ana Rius
•
Natalia Aguirre
4 more
•
Marcelo Martí
Published
November 29, 2024
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Journal
Clinica Chimica Acta
Topics
Internal Medicine
Endocrinology
Biology
Internal Medicine
Chemistry
Medicine
Endocrinology
Show all topics
DOI
10.1016/j.cca.2024.120065
