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pathogenic gene published presentations and documents on DocSlides.

Canavan disease
Canavan disease
by cadie
Version 10 Contact details Regional Genetics Serv...
4 Things to know
4 Things to know
by stella
1POLE mutationYour testing shows that you have a p...
STUDY DESIGN: We evaluated the frequency of
STUDY DESIGN: We evaluated the frequency of
by anderson
individuals representative of the general populati...
BioCuration WG Variant Curation
BioCuration WG Variant Curation
by ivy
Steven Harrison. June 8 2017. sharrison@bwh.harvar...
Colorectal polyposis
Colorectal polyposis
by ani
Version 10 Contact details Regional Genetics Serv...
Case V arr [GRCh37] Xp22.11(23223505_23660309)x1 mat
Case V arr [GRCh37] Xp22.11(23223505_23660309)x1 mat
by natalie
3 year-old female referred for genomic microarray ...
Use of in silico algorithms for variant interpretation
Use of in silico algorithms for variant interpretation
by MommaBear
ACMG/AMP Variant . Interpretation . guidelines . (...
TALENs Transcription activator-like effectors (TALEs) are produced by plant pathogenic bacteria in the genus
TALENs Transcription activator-like effectors (TALEs) are produced by plant pathogenic bacteria in the genus
by faustina-dinatale
TALENs Transcription activator-like effectors (TA...
5 Things To Know
5 Things To Know
by emma
1 SUFU mutation Your testing shows that you have ...
Guide to Interpreting
Guide to Interpreting
by cadie
Genomic ReportsA Genomics Toolkitnon-genetics prov...
Case M arr [GRCh37] 16q22.1
Case M arr [GRCh37] 16q22.1
by amey
(68797032_68846703) x3 . 35-year-old male with gas...
4 Things To Know
4 Things To Know
by hailey
1 CHEK2 mutation Your testing shows that you have...
Clinical characteristicsDiagnosistestingManagementGenetic counseli
Clinical characteristicsDiagnosistestingManagementGenetic counseli
by caitlin
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