NF1 c.6719_6720insGCAAACGAGTGTCTTCA ;(p.Y2240*)

Variant ID: 17-29665056-T-TAGCAAACGAGTGTCTTC

NM_001042492.2(NF1):c.6719_6720insGCAAACGAGTGTCTTCA;(p.Y2240*)

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: 6718_6719insAGCAAACGAGTGTCTTC
PubMed Link: 24932921
Variant Present in the following documents:
  • Main text
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