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Quantitative Assessment of Parental Somatic Mosaicism for CNV Deletions

As genome sequencing methodologies become more sensitive to the detection of low frequency rare variant events, the link between post-zygotic mutagenesis and somatic mosaicism in the etiology of several human genetic conditions other than cancers has become more clear. Since current clinical genomic...

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Bibliografische gegevens
Gepubliceerd in:Curr Protoc Hum Genet
Hoofdauteurs: Liu, Qian, Grochowski, Christopher M., Bi, Weimin, Lupski, James R., Stankiewicz, Paweł
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 2020
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7138410/
https://ncbi.nlm.nih.gov/pubmed/32176465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/cphg.99
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