NF1 c.1643_1701del ;(p.A548Gfs*7)

Variant ID: 17-29548869-GCTCTGCTGGTTCTTCATCAGTTAGATAGCATTGATTTGTGGAATCCTGATGCTCCTGTA-G

NM_001042492.2(NF1):c.1643_1701del;(p.A548Gfs*7)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


The reduced osteogenic potential of Nf1-deficient osteoprogenitors is EGFR-independent.

Bone
Tahaei, S E SE; Couasnay, G G; Ma, Y Y; Paria, N N; Gu, J J; Lemoine, B F BF; Wang, X X; Rios, J J JJ; Elefteriou, F F
Publication Date: 2018-01

Variant appearance in text: NF1: 1642_6999del
PubMed Link: 29032173
Variant Present in the following documents:
  • Main text
View BVdb publication page



Children with 5'-end NF1 gene mutations are more likely to have glioma.

Neurology. Genetics
Anastasaki, Corina C; Morris, Stephanie M SM; Gao, Feng F; Gutmann, David H DH
Publication Date: 2017-10

Variant appearance in text: NF1: Ala548_Lys615del
PubMed Link: 28955729
Variant Present in the following documents:
  • supp_3.5.e192_NG_2017_005934R1_Supplementary_Data.pdf
View BVdb publication page



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: 1642_6999del
PubMed Link: 24932921
Variant Present in the following documents:
  • Main text
View BVdb publication page