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Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia.
Gray MJ, Kannu P, Sharma S, Neyt C, Zhang D, Paria N, Daniel PB, Whetstone H, Sprenger HG, Hammerschmidt P, Weng A, Dupuis L, Jobling R, Mendoza-Londono R, Dray M, Su P, Wilson MJ, Kapur RP, McCarthy EF, Alman BA, Howard A, Somers GR, Marshall CR, Manners S, Flanagan AM, Rathjen KE, Karol LA, Crawford H, Markie DM, Rios JJ, Wise CA, Robertson SP. Gray MJ, et al. Among authors: kapur rp. Am J Hum Genet. 2015 Dec 3;97(6):837-47. doi: 10.1016/j.ajhg.2015.11.001. Am J Hum Genet. 2015. PMID: 26637977 Free PMC article.
VACTERL phenotype with mosaic trisomy 5 and uniparental disomy 5.
Hwang S, Rudd MK, Finch L, Peterson SE, Kapur RP. Hwang S, et al. Among authors: kapur rp. Am J Med Genet A. 2018 Feb;176(2):502-504. doi: 10.1002/ajmg.a.38579. Epub 2017 Dec 18. Am J Med Genet A. 2018. PMID: 29250894 No abstract available.
Prenatal diagnosis of tetraploidy: a case report.
Coe SJ, Kapur R, Luthardt F, Rabinovitch P, Kramer D. Coe SJ, et al. Am J Med Genet. 1993 Feb 1;45(3):378-82. doi: 10.1002/ajmg.1320450320. Am J Med Genet. 1993. PMID: 8434628 Review.
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