Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. [electronic resource]
Producer: 20120517Description: 70-2 p. digitalISSN:- 1435-232X
- 1-Alkyl-2-acetylglycerophosphocholine Esterase -- chemistry
- Amino Acid Sequence
- Base Sequence
- Child
- Classical Lissencephalies and Subcortical Band Heterotopias -- genetics
- Exome -- genetics
- Female
- Gene Frequency -- genetics
- Humans
- Magnetic Resonance Imaging
- Microtubule-Associated Proteins -- chemistry
- Molecular Sequence Data
- Mosaicism
- Sequence Analysis, DNA -- methods
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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