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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...
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 P arr [GRCh37] 17q21.2
Case P arr [GRCh37] 17q21.2
by Princecharming
(39529437_39545915) x3 mat. 10-year-old female wit...
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 E arr [GRCh37] 15q13.2
Case E arr [GRCh37] 15q13.2
by miller
(30507853_30807921) x1 pat. 6 month old male with ...
Case T arr [GRCh37] 1q22
Case T arr [GRCh37] 1q22
by ceila
(155887333_156224120) x3. Newborn with unspecified...
Case S arr [GRCh37] 3q26.32
Case S arr [GRCh37] 3q26.32
by paisley
(175816894_177834521)x3 mat. 6-year-old male with ...
Hearing Loss CDWG Curation
Hearing Loss CDWG Curation
by leah
Update. Biocurator. Call. 5.11.17. Marina DiStefa...
Case F arr [GRCh37] 1p36.33
Case F arr [GRCh37] 1p36.33
by harmony
(1379519_1435227)x1. 2-month-old female with unila...
Case N arr [GRCh37] 10q22.2
Case N arr [GRCh37] 10q22.2
by blanko
(76738122-76743018) x3 . 4 year old female with de...
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;...
ClinGen RASopathy EP Gene Curation
ClinGen RASopathy EP Gene Curation
by morton
Biocurator Working Group Presentation. 5.10.2018. ...
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