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The top documents tagged [pathogenic variants]
Bristol Genetics Laboratory Familial Hypercholesterolaemia: LIPOchip ® experience Laura Yarram Bristol Genetics Laboratory
267 views
VUS: The clinician’s view Mary Porteous On behalf of Scottish Clinical Geneticists
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Molecular Mechanisms of Bacterial Resistance to Antimicrobial Agents 522-534
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Www.iccg.org A Unified Clinical Genomics Database NHGRI - U41 Genomic Resource Grant
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Themes: Immune evasion by viruses Zoonoses: transmission to humans Viruses as prophylactics
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Replication Stress Induces Genome-wide Copy Number Changes in Human Cells that Resemble Polymorphic and Pathogenic Variants Martin F. Arlt, Jennifer G
215 views
Hereditary Colorectal Cancer Syndromes Philip Kam Queen Elizabeth Hospital
221 views
Bristol Genetics Laboratory 2010 Congenital Central Hypoventilation Syndrome; a polyalanine repeat disorder- the UK cohort Sarah Burton-Jones Bristol Genetics
227 views
Genome-wide analysis of noncoding regulatory mutations in cancer Nils Weinhold, Anders Jacobsen, Nikolaus Schultz, Chris Sander & William Lee 1 Computational
218 views
Bioinformatics. Sequence information Mapping information Phenotypic information Literature Prediction programs -Gene prediction -Promotor prediction -Functional
213 views