The Consequences of Abnormal Gene Dosage: Lessons from Chromosome 18

Accurate interpretation of genomic copy number variation (CNV) remains a challenge and has important consequences for both congenital and late-onset disease. Hemizygosity dosage characterization of the genes on chromosome 18 reveals a spectrum of outcomes ranging from no clinical effect, to risk fac...

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Veröffentlicht in:	Trends in genetics 2020-10, Vol.36 (10), p.764-776
1. Verfasser:	Cody, Jannine DeMars
Format:	Artikel
Sprache:	eng
Schlagworte:	chromosome abnormality gene dosage haploinsufficiency hemizygosity penetrance
Online-Zugang:	Volltext
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