NF1 c.288+2T>G

Variant ID: 17-29486113-T-G

NM_001042492.2(NF1):c.288+2T>G

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define premalignant neurofibromatosis type 1-associated atypical neurofibromas.

Neuro-Oncology
Pemov, Alexander A; Hansen, Nancy F NF; Sindiri, Sivasish S; Patidar, Rajesh R; Higham, Christine S CS; Dombi, Eva E; Miettinen, Markku M MM; Fetsch, Patricia P; Brems, Hilde H; Chandrasekharappa, Settara C SC; Jones, Kristine K; Zhu, Bin B; Wei, Jun S JS; , ; , ; Mullikin, James C JC; Wallace, Margaret R MR; Khan, Javed J; Legius, Eric E; Widemann, Brigitte C BC; Stewart, Douglas R DR
Publication Date: 2019-08-05

Variant appearance in text: NF1: 288+2T>G
PubMed Link: 30722027
Variant Present in the following documents:
  • Main text
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