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Literature
- NEW! SeqCap EZ Library
Brochure (PDF Format 4.1MB) - NEW! NimbleGen SeqCap EZ Library SR User's Guide (Version 4.0)
For use with SeqCap EZ Exome and SeqCap EZ Choice (short read sequencing protocol)
User's Guide (PDF Format 1.3MB)
Publications
Apr 2013 | Nat. Genet.
SMIM1 underlies the Vel blood group and influences red blood cell traits.Mar 2013 | Cell
Endogenous retrotransposition activates oncogenic pathways in hepatocellular carcinoma.Apr 2013 | Am. J. Hum. Genet.
WNT1 Mutations in Families Affected by Moderately Severe and Progressive Recessive Osteogenesis Imperfecta.Apr 2013 | Am. J. Hum. Genet.
Hypomorphic Mutations in PGAP2, Encoding a GPI-Anchor-Remodeling Protein, Cause Autosomal-Recessive Intellectual Disability.Apr 2013 | Am. J. Hum. Genet.
Mutations in LARS2, Encoding Mitochondrial Leucyl-tRNA Synthetase, Lead to Premature Ovarian Failure and Hearing Loss in Perrault Syndrome.
