Whole-exome analysis results of P1.
- Alexandre Bolze (189316)
- Avinash Abhyankar (140166)
- Audrey V. Grant (189323)
- Bhavi Patel (189330)
- Ruchi Yadav (189335)
- Minji Byun (189341)
- Daniel Caillez (189349)
- Jean-Francois Emile (5649208)
- Marçal Pastor-Anglada (189362)
- Laurent Abel (69833)
- Anne Puel (189374)
- Rajgopal Govindarajan (102698)
- Loic de Pontual (189384)
- Jean-Laurent Casanova (64712)
Publication date
January 2012
DOIAbstract
<p>Coding variants include missense, nonsense, frameshift, in-frame deletions and insertions and readthrough variants.</p><p>Splice variants include all variants within 8 bp in the intron side, or 3 bp in the exon side of a splice junction.</p>a<p>: Both homozygous and heterozygous variations are included.</p>b<p>: Position coordinates for the markers correspond to the hg19, NCBI build 37.</p
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