Type

Journal Article

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

Nicolas Aguirre

Lorenzo Erra

Franco Gino Brunello

German Biagioli

Jonathan Zaiat

Marcelo A. Marti

Year:

2024

Clin Chim Acta

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