Search Results for 'variant novo'

variant novo published presentations and documents on DocSlides.

ClinGen Sequence Variant Interpretation Recommendation for de novo Cri

by holly

-Version 11 Working Group Pagehttps//clinicalgenom...

BioCuration Call: Sequence Variant Interpretation WG Update

by Littlespud

Steven Harrison (. sharrison@bwh.harvard.edu. ). M...

Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (

by ivy

dn. ). 5-year-old female with developmental delay;...

Neurodevelopmental CDWG Update: The curation of a complicated gene-disease relationship (

by taylor

RELN). On behalf of the. ID/Autism GCEP. 5/9/2019....

For Research Use Only Not for use in diagnostic procedures Copyrig

by beatrice

rig hts reserved. PN 101 - 855 - 400 Ver 03 (April...

ClinGen RASopathy EP Gene Curation

by morton

Biocurator Working Group Presentation. 5.10.2018. ...