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Identification of novel candidate disease genes from de novo exonic copy number variants.
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Identification of novel candidate disease genes from de novo exonic copy number variants.
Identification of novel candidate disease genes from de novo exonic copy number variants. Genome Med. 2017 09 21; 9(1):83.
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PubMed
subject areas
Cohort Studies
DNA Copy Number Variations
Exons
Genetic Diseases, Inborn
Genome, Human
Homeodomain Proteins
Humans
Intracellular Signaling Peptides and Proteins
Membrane Proteins
Neurodevelopmental Disorders
Retrospective Studies
Transcription Factors
Whole Genome Sequencing
authors with profiles
RONIT MAROM
PAWEL STANKIEWICZ
CHAD SHAW
WEIMIN BI
SEEMA LALANI
CARLOS BACINO
JAMES LUPSKI
EDWARD BUCHANAN
BO YUAN
ELIZABETH ROEDER
LISA EMRICK
SAU WAI CHEUNG
HSIAO-TUAN CHAO
PENGFEI LIU
SANDESH NAGAMANI