Clinical Sequencing Papers of Note

May 04, 2011

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Loss-of-function mutations in PTPN11 cause metachondromatosis, but not Ollier disease or Maffucci syndrome.
Bowen ME, Boyden ED, Holm IA, et al.
PLoS Genet. 2011 Apr;7(4):e1002050. Epub 2011 Apr 14.

Massive-scale RNA-seq analysis of non ribosomal transcriptome in human trisomy 21.
Costa V, Angelini C, D'Apice L, et al.
PLoS One. 2011 Apr 20;6(4):e18493.

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