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NF1 c.3326T>A ;(p.L1109*)
Variant ID: 17-29559729-T-A
NM_001042492.2(
NF1
):c.3326T>A;(p.L1109*)
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:
A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.
Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17
Variant appearance in text: NF1: 3326T>A; Leu1109Ter
PubMed Link:
35584624
Variant Present in the following documents:
mmc2.xlsx, sheet 4
View BVdb publication page
Familial Lipomas Without Classic Neurofibromatosis-1 Caused by a Missense Germline NF1 Mutation.
Neurology. Genetics
Ramirez, Erika E; Morris, Stephanie M SM; Turner, Tychele N TN; Gutmann, David H DH
Publication Date: 2021-06
Variant appearance in text: NF1: Leu1109X
PubMed Link:
33884301
Variant Present in the following documents:
Main text
View BVdb publication page