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Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Genome Med. 2019 Dec 31;12(1):3. doi: 10.1186/s13073-019-0690-2.
Genome Med. 2019.
PMID: 31892348
Free PMC article.
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM, McNulty SM, Jairath MK, Brnich SE, Bizon C, Powell BC, Berg JS.
Kanavy DM, et al.
Genome Med. 2019 Nov 29;11(1):77. doi: 10.1186/s13073-019-0683-1.
Genome Med. 2019.
PMID: 31783775
Free PMC article.
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