Bibliome.ai browser hg19
Search
About
Stats
FAQ
NF1 c.2258del ;(p.A753Efs*7)
Variant ID: 17-29554242-GC-G
NM_001042492.2(
NF1
):c.2258del;(p.A753Efs*7)
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:
A programmable method for massively parallel targeted sequencing.
Nucleic Acids Research
Hopmans, Erik S ES; Natsoulis, Georges G; Bell, John M JM; Grimes, Susan M SM; Sieh, Weiva W; Ji, Hanlee P HP
Publication Date: 2014-06
Variant appearance in text: NF1: 2258delC
PubMed Link:
24782526
Variant Present in the following documents:
Main text
gku282.pdf
View BVdb publication page