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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

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Dettagli Bibliografici
Autori principali: Bo Yuan, Lei Wang, Pengfei Liu, Chad A. Shaw, Hongzheng Dai, Lance Cooper, Wenmiao Zhu, Stephanie A. Anderson, Linyan Meng, Xia Wang, Yue Wang, Fan Xia, Rui Xiao, Alicia Braxton, Sandra Peacock, Eric Schmitt, Patricia A. Ward, Francesco Vetrini, Weimin He, Theodore Chiang, Donna M. Muzny, Richard A. Gibbs, Arthur L. Beaudet, Amy M. Breman, Janice Smith, Sau Wai Cheung, Carlos A. Bacino, Christine M. Eng, Yaping Yang, James R. Lupski, Weimin Bi
Natura: Artigo
Lingua:inglese
Pubblicazione: 2020
Accesso online:https://doi.org/10.1038/s41436-020-0864-8
http://www.gimjournal.org/article/S1098360021007528/pdf
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Accesso online

https://doi.org/10.1038/s41436-020-0864-8
http://www.gimjournal.org/article/S1098360021007528/pdf

Documenti analoghi

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  • Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases
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  • The dynamic landscape of BRCA1 reversion mutations from indel to SNV in a patient with ovarian cancer treated with PARP-inhibitors and immunotherapy
    di: Jacob, Saya L., et al.
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