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Genetics in Medicine Open
(Jan 2024)
P712: A novel framework for use of the PP1/BS4 co-segregation and PP4 phenotype specificity criteria for sequence variant pathogenicity classification
Leslie Biesecker,
Alicia Byrne,
Steven Harrison,
Tina Pesaran,
Alejandro Schäffer,
Brian Shirts,
Sean Tavtigian,
Heidi Rehm
Affiliations
Leslie Biesecker
NIH
Alicia Byrne
Broad Institute
Steven Harrison
Ambry
Tina Pesaran
Ambry
Alejandro Schäffer
NCI
Brian Shirts
University of Washington
Sean Tavtigian
University of Utah
Heidi Rehm
Broad Institute
Journal volume & issue
Vol. 2
p. 101616
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