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NF1 c.1448A>G ;(p.D483G)
Variant ID: 17-29541524-A-G
NM_001042492.2(
NF1
):c.1448A>G;(p.D483G)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Genetic diagnosis of neurofibromatosis type 1: targeted next- generation sequencing with Multiple Ligation-Dependent Probe Amplification analysis.
Journal Of Biomedical Science
Wu-Chou, Yah-Huei YH; Hung, Tzu-Chao TC; Lin, Yin-Ting YT; Cheng, Hsing-Wen HW; Lin, Ju-Li JL; Lin, Chih-Hung CH; Yu, Chung-Chih CC; Chen, Kuo-Ting KT; Yeh, Tu-Hsueh TH; Chen, Yu-Ray YR
Publication Date: 2018-10-05
Variant appearance in text: NF1: 1448A>G
PubMed Link:
30290804
Variant Present in the following documents:
Main text
12929_2018_Article_474.pdf
View BVdb publication page
Systematic drug screening reveals specific vulnerabilities and co-resistance patterns in endocrine-resistant breast cancer.
Bmc Cancer
Kangaspeska, Sara S; Hultsch, Susanne S; Jaiswal, Alok A; Edgren, Henrik H; Mpindi, John-Patrick JP; Eldfors, Samuli S; Brück, Oscar O; Aittokallio, Tero T; Kallioniemi, Olli O
Publication Date: 2016-07-04
Variant appearance in text: NF1: D483G
PubMed Link:
27378269
Variant Present in the following documents:
12885_2016_2452_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page