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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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