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Informing Variant Assessment Using Structured Evidence from Prior Classifications (PS1, PM5, and PVS1 Sequence Variant Interpretation Criteria)

Genetics in Medicine(2022)

Cited 1|Views17
Key words
ACMG,AMP,ClinVar,PS1,PM5,PVS1 evidence,Sequence variant interpretation,guidelines,Variants of uncertainsignificance
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