A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

<h3>Background:</h3> International databases with information on copy number variation of the human genome are an important reference for laboratories using high resolution whole genome screening. Genomic deletions or duplications which have been detected in the healthy population and th...

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Main Authors: Jeroen Knijnenburg, Saskia A.J. Lesnik Oberstein, Klemens Frei, Trevor Lucas, A.C.J. Gijsbers, Claudia Ruivenkamp, Hans J. Tanke, Károly Szuhai
Formato: Artigo
Idioma:inglés
Publicado: 2009
Acceso en liña:https://doi.org/10.1136/jmg.2008.063685
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