1 | FAM192A, RSPRY1 |
Isolation, expression analysis and characterization of NEFA-interacting nuclear protein 30 and RING finger and SPRY domain containing 1 in skeletal muscle. | |
Waddell DS, Duffin PJ, Haddock AN, Triplett VE, Saredy JJ, Kakareka KM, Eldredge JT. | |
Gene ene. 2015 Oct 20. pii: S0378-1119(15)01254-8. doi: 10.1016/j.gene.2015.10.046. [Epub ahead of print] 2015 | |
2 | RSPRY1, SEMDRM |
Identification of a Recognizable Progressive Skeletal Dysplasia Caused by RSPRY1 Mutations. | |
Faden M, AlZahrani F, Mendoza-Londono R, Dupuis L, Hartley T, Kannu P, Raiman JA, Howard A, Qin W, Tetreault M, Xi JQ, Al-Thamer I; Care4Rare Canada Consortium, Maas RL, Boycott K, Alkuraya FS. | |
Am J Hum Genet 97(4):608-15. doi: 10.1016/j.ajhg.2015.08.007. Epub 2015 Sep 10. 2015 | |