Articles with "curation rules" as a keyword



Revision of RUNX1 variant curation rules

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Published in 2022 at "Blood Advances"

DOI: 10.1182/bloodadvances.2022008017

Abstract: Sequence variant interpretation (SVI) is a formal process by which gene variants are classi fi ed as pathogenic (P), likely pathogenic (LP), variant of uncertain signi fi cance, likely benign (LB), or benign (B). The… read more here.

Keywords: revision runx1; variant curation; curation; pathology ... See more keywords