NF1 c.133_140del ;(p.N45Qfs*19)

Variant ID: 17-29483070-ATCAATATT-A

NM_001042492.2(NF1):c.133_140del;(p.N45Qfs*19)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Neurofibromin deficiency-associated transcriptional dysregulation suggests a novel therapy for tibial pseudoarthrosis in NF1.

Journal Of Bone And Mineral Research : The Official Journal Of The American Society For Bone And Mineral Research
Paria, Nandina N; Cho, Tae-Joon TJ; Choi, In Ho IH; Kamiya, Nobuhiro N; Kayembe, Kay K; Mao, Rong R; Margraf, Rebecca L RL; Obermosser, Gerlinde G; Oxendine, Ila I; Sant, David W DW; Song, Mi Hyun MH; Stevenson, David A DA; Viskochil, David H DH; Wise, Carol A CA; Kim, Harry K W HK; Rios, Jonathan J JJ
Publication Date: 2014-12

Variant appearance in text: NF1: 133_140delAATATTTC; Asn45fs
PubMed Link: 24932921
Variant Present in the following documents:
  • Main text
View BVdb publication page