NF1 c.2256A>G ;(p.R752=)

Variant ID: 17-29554240-A-G

NM_001042492.2(NF1):c.2256A>G;(p.R752=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Glomus tumors in neurofibromatosis type 1: genetic, functional, and clinical evidence of a novel association.

Cancer Research
Brems, Hilde H; Park, Caroline C; Maertens, Ophélia O; Pemov, Alexander A; Messiaen, Ludwine L; Messia, Ludwine L; Upadhyaya, Meena M; Claes, Kathleen K; Beert, Eline E; Peeters, Kristel K; Mautner, Victor V; Sloan, Jennifer L JL; Yao, Lawrence L; Lee, Chyi-Chia Richard CC; Sciot, Raf R; De Smet, Luc L; Legius, Eric E; Stewart, Douglas R DR
Publication Date: 2009-09-15

Variant appearance in text: NF1: 2256A>G
PubMed Link: 19738042
Variant Present in the following documents:
  • Main text
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