NF1 c.396_403del ;(p.L134Ffs*19)

Variant ID: 17-29490309-GCTGAACTT-G

NM_001042492.2(NF1):c.396_403del;(p.L134Ffs*19)

This variant was identified in 2 publications

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: N/A
PubMed Link: 24932921
Variant Present in the following documents:
View BVdb publication page



Neurofibromatosis type 1-associated tumours: their somatic mutational spectrum and pathogenesis.

Human Genomics
Laycock-van Spyk, Sebastian S; Thomas, Nick N; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2011-10

Variant appearance in text: NF1: 396_403del
PubMed Link: 22155606
Variant Present in the following documents:
  • Main text
  • 1479-7364-5-6-623.pdf
View BVdb publication page