NF1 c.3312dup ;(p.K1105*)

Variant ID: 17-29559203-C-CT

NM_001042492.2(NF1):c.3312dup;(p.K1105*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The NF1 gene contains hotspots for L1 endonuclease-dependent de novo insertion.

Plos Genetics
Wimmer, Katharina K; Callens, Tom T; Wernstedt, Annekatrin A; Messiaen, Ludwine L
Publication Date: 2011-11

Variant appearance in text: NF1: 3312_3313insT
PubMed Link: 22125493
Variant Present in the following documents:
  • Main text
  • pgen.1002371.pdf
View BVdb publication page