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Molecular assay reagents intended to identify deletions or duplications of the chromodomain helicase DNA binding protein 7 (CHD7) gene, located at chromosome 8q12.2, which encodes the protein chromodomain-helicase-DNA-binding protein 7. Genetic variants at this locus have been associated with Kallmann syndrome 5, tracheoesophageal fistula, and CHARGE association.
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