Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.

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Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.Advances in the Understanding of the Genetic Determinants of Congenital Heart Disease and Their Impact on Clinical Outcomes.

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Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.

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Partial microduplication in th ...... crodeletion syndrome patients.

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Partial microduplication in th ...... crodeletion syndrome patients.

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Partial microduplication in th ...... crodeletion syndrome patients.

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Partial microduplication in th ...... icrodeletion syndrome patients

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Cecilia Vial

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Gabriela M Repetto

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Karena Espinoza

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Luis E León

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Macarena Miranda

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Mirta Palomares

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Patricia Alvarez

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Subunit composition and substrate specificity of a MOF-containing histone acetyltransferase distinct from the male-specific lethal (MSL) complex

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Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

Cytoscape: a software environment for integrated models of biomolecular interaction networks

The UCSC Genome Browser Database: update 2006

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

22q11 deletion syndrome: current perspective.

Epigenetic mechanisms in heart development and disease

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis

Copy-number variation and association studies of human disease

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s41598-017-01896-w

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scholarly article

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10.1038/S41598-017-01896-W

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English

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Guillermo Lay-Son

Felipe Benavides

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2017-05-11T00:00:00Z

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birth defect

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Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.

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P2860

P2860

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.

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