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Exome sequencing identifies the cause of a mendelian disorder

✍ Scribed by Ng, Sarah B; Buckingham, Kati J; Lee, Choli; Bigham, Abigail W; Tabor, Holly K; Dent, Karin M; Huff, Chad D; Shannon, Paul T; Jabs, Ethylin Wang; Nickerson, Deborah A


Book ID
109914549
Publisher
Nature Publishing Group
Year
2009
Tongue
English
Weight
347 KB
Volume
42
Category
Article
ISSN
1061-4036

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Exome sequencing of a pedigree with tour
✍ Senthil K. Sundaram; Ahm M. Huq; Zhen Sun; Wu Yu; Lindsey Bennett; Benjamin J. W πŸ“‚ Article πŸ“… 2011 πŸ› John Wiley and Sons 🌐 English βš– 101 KB

## Abstract Ten members of a 3‐generation pedigree with 7 showing Tourette syndrome/chronic tic phenotype (TS‐CTD) were evaluated with whole exome sequencing. We identified 3 novel, nonsynonymous single nucleotide variants in the __MRPL3, DNAJC13__, and __OFCC1__ genes that segregated with chronic