A missense mutation in LRR8 of RXFP2 is associated with cryptorchidism
β Scribed by Rebecca M. Harris; Courtney Finlayson; Jeffrey Weiss; Lisa Fisher; Lisa Hurley; Tim Barrett; Donna Emge; Ross A. D. Bathgate; Alexander I. Agoulnik; J. Larry Jameson
- Publisher
- Springer-Verlag
- Year
- 2010
- Tongue
- English
- Weight
- 576 KB
- Volume
- 21
- Category
- Article
- ISSN
- 0938-8990
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## Abstract Largeβscale next generation resequencing of X chromosome genes identified a missense mutation in the __CLIC2__ gene on Xq28 in a male with Xβlinked intellectual disability (XLID) and not found in healthy individuals. At the same time, numerous nsSNPs (nonsynonomous SNP) have been report