Bibliome.ai browser hg19
Search
About
Stats
FAQ
NF1 c.4083del ;(p.R1362Efs*16)
Variant ID: 17-29576108-CT-C
NM_001042492.2(
NF1
):c.4083del;(p.R1362Efs*16)
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:
Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.
Balkan Journal Of Medical Genetics : Bjmg
Ulusal, S D SD; Gürkan, H H; Atlı, E E; Özal, S A SA; Çiftdemir, M M; Tozkır, H H; Karal, Y Y; Güçlü, H H; Eker, D D; Görker, I I
Publication Date: 2017-06-30
Variant appearance in text: NF1: 4082delT
PubMed Link:
28924536
Variant Present in the following documents:
Main text
bjmg-20-013.pdf
View BVdb publication page