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NF1 c.3868A>T ;(p.K1290*)
Variant ID: 17-29562788-A-T
NM_001042492.2(
NF1
):c.3868A>T;(p.K1290*)
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 development of cutaneous neurofibromas.
The American Journal Of Pathology
Jouhilahti, Eeva-Mari EM; Peltonen, Sirkku S; Callens, Tom T; Jokinen, Elina E; Heape, Anthony M AM; Messiaen, Ludwine L; Peltonen, Juha J
Publication Date: 2011-02
Variant appearance in text: NF1: 3868A>T; Lys1290X
PubMed Link:
21281783
Variant Present in the following documents:
Main text
View BVdb publication page