CUX1 c.1576del ;(p.S526Afs*39)

Variant ID: 7-101840264-CA-C

NM_181552.3(CUX1):c.1576del;(p.S526Afs*39)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical and molecular consequences of disease-associated de novo mutations in SATB2.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bengani, Hemant H; Handley, Mark M; Alvi, Mohsan M; Ibitoye, Rita R; Lees, Melissa M; Lynch, Sally Ann SA; Lam, Wayne W; Fannemel, Madeleine M; Nordgren, Ann A; Malmgren, H H; Kvarnung, M M; Mehta, Sarju S; McKee, Shane S; Whiteford, Margo M; Stewart, Fiona F; Connell, Fiona F; Clayton-Smith, Jill J; Mansour, Sahar S; Mohammed, Shehla S; Fryer, Alan A; Morton, Jenny J; , ; Grozeva, Detelina D; Asam, Tara T; Moore, David D; Sifrim, Alejandro A; McRae, Jeremy J; Hurles, Matthew E ME; Firth, Helen V HV; Raymond, F Lucy FL; Kini, Usha U; NellÄker, Christoffer C; Ddd Study, ; FitzPatrick, David R DR
Publication Date: 2017-08

Variant appearance in text: CUT: 1574delA
PubMed Link: 28151491
Variant Present in the following documents:
  • gim2016211a.pdf
View BVdb publication page