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Search Results for 'variant points'

variant points published presentations and documents on DocSlides.

ClinGen Sequence Variant Interpretation Recommendation for de novo Cri
ClinGen Sequence Variant Interpretation Recommendation for de novo Cri
by holly
-Version 11 Working Group Pagehttps//clinicalgenom...
BioCuration Call: Sequence Variant Interpretation WG Update
BioCuration Call: Sequence Variant Interpretation WG Update
by Littlespud
Steven Harrison (. sharrison@bwh.harvard.edu. ). M...
CNV J arr [GRCh37] 3q28 (190380498_191783134)x1
CNV J arr [GRCh37] 3q28 (190380498_191783134)x1
by alyssa
No phenotype or inheritance information provided. ...
Case P arr [GRCh37] 17q21.2
Case P arr [GRCh37] 17q21.2
by Princecharming
(39529437_39545915) x3 mat. 10-year-old female wit...
Case Z arr [GRCh37] 19p13.11(18291753_18311626) x3
Case Z arr [GRCh37] 19p13.11(18291753_18311626) x3
by berey
2-month-old female with Tetralogy of Fallot; inher...
Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (
Case B arr [GRCh37] 11p11.2 (45904399_46480747) x 1 (
by ivy
dn. ). 5-year-old female with developmental delay;...
Case N arr [GRCh37] 10q22.2
Case N arr [GRCh37] 10q22.2
by blanko
(76738122-76743018) x3 . 4 year old female with de...
Case F arr [GRCh37] 1p36.33
Case F arr [GRCh37] 1p36.33
by harmony
(1379519_1435227)x1. 2-month-old female with unila...
Hearing Loss CDWG Curation
Hearing Loss CDWG Curation
by leah
Update. Biocurator. Call. 5.11.17. Marina DiStefa...
Case S arr [GRCh37] 3q26.32
Case S arr [GRCh37] 3q26.32
by paisley
(175816894_177834521)x3 mat. 6-year-old male with ...
Case T arr [GRCh37] 1q22
Case T arr [GRCh37] 1q22
by ceila
(155887333_156224120) x3. Newborn with unspecified...
Case E arr [GRCh37] 15q13.2
Case E arr [GRCh37] 15q13.2
by miller
(30507853_30807921) x1 pat. 6 month old male with ...
Be the first to reach the centre of theboard with your 4 pieces.Each p
Be the first to reach the centre of theboard with your 4 pieces.Each p
by spiderslipk
Ludo & Co Games rules
ClinGen RASopathy EP Gene Curation
ClinGen RASopathy EP Gene Curation
by morton
Biocurator Working Group Presentation. 5.10.2018. ...
CNV J arr[GRCh37] 3q28 (190380498_191783134)x1 No
CNV J arr[GRCh37] 3q28 (190380498_191783134)x1 No
by alexa-scheidler
CNV J arr[GRCh37] 3q28 (190380498_191783134)x1 No ...