Compound heterozygotes in exome data for genes in which every case had a least two novel variants in the same gene isoform, only 6 genes (9 total isoforms) satisfied this criterion.
- John W. Cole (170140)
- O. Colin Stine (160242)
- Xinyue Liu (170148)
- Abhishek Pratap (170153)
- Yuching Cheng (170161)
- Luke J. Tallon (170168)
- Lisa K. Sadzewicz (170176)
- Nicole Dueker (170183)
- Marcella A. Wozniak (170188)
- Barney J. Stern (170195)
- James F. Meschia (170203)
- Braxton D. Mitchell (110791)
- Steven J. Kittner (170212)
- Jeffrey R. O'Connell (170220)
Publication date
April 2012
DOIAbstract
<p>The figure illustrates the 9 isoforms (left y-axis) per sample (x-axis) by variant type (left y-axis). Notably, two of the <i>CTPB2</i> isoforms (NM_001329 and NM_ 001083914) were seen to have a non-sense codon occurring in all 10 samples.</p
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