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Additional file 1 of The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic

Authors :
Stafford, Fergus
Krishnan, Neesha
Richardson, Ebony
Butters, Alexandra
Hespe, Sophie
Burns, Charlotte
Gray, Belinda
Medi, Caroline
Nowak, Natalie
Isbister, Julia C.
Raju, Hariharan
Richmond, David
Ryan, Mark P.
Singer, Emma S.
Sy, Raymond W.
Yeates, Laura
Bagnall, Richard D.
Semsarian, Christopher
Ingles, Jodie
Publication Year :
2023
Publisher :
figshare, 2023.

Abstract

Additional file 1: Table S1. Tier 1 and Tier 2 gene lists. Table S2. Classified variants. Table S3. Classified suspicious VUS. Table S4. Severe phenotype characteristics used in monogenic disease score. Fig. S1. Reasons for additional genetic diagnoses.

Details

Database :
OpenAIRE
Accession number :
edsair.doi.dedup.....6b90fa4756052285173b9e15e3790b31
Full Text :
https://doi.org/10.6084/m9.figshare.22604450