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NF1 c.3314+2T>C
Variant ID: 17-29559209-T-C
NM_001042492.2(
NF1
):c.3314+2T>C
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A Translational Approach to Spinal Neurofibromatosis: Clinical and Molecular Insights from a Wide Italian Cohort.
Cancers
Paterra, Rosina R; Bettinaglio, Paola P; Borghi, Arianna A; Mangano, Eleonora E; Tritto, Viviana V; Cesaretti, Claudia C; Schettino, Carla C; Bordoni, Roberta R; Santoro, Claudia C; Avignone, Sabrina S; Moscatelli, Marco M; Melone, Mariarosa Anna Beatrice MAB; Saletti, Veronica V; Piluso, Giulio G; Natacci, Federica F; Riva, Paola P; Eoli, Marica M
Publication Date: 2022-12-22
Variant appearance in text: NF1: 3314+2T>C
PubMed Link:
36612057
Variant Present in the following documents:
cancers-15-00059.pdf
View BVdb publication page
One NF1 Mutation may Conceal Another.
Genes
Pacot, Laurence L; Burin des Roziers, Cyril C; Laurendeau, Ingrid I; Briand-Suleau, Audrey A; Coustier, Audrey A; Mayard, Théodora T; Tlemsani, Camille C; Faivre, Laurence L; Thomas, Quentin Q; Rodriguez, Diana D; Blesson, Sophie S; Dollfus, Hélène H; Muller, Yvon-Gauthier YG; Parfait, Béatrice B; Vidaud, Michel M; Gilbert-Dussardier, Brigitte B; Yardin, Catherine C; Dauriat, Benjamin B; Derancourt, Christian C; Vidaud, Dominique D; Pasmant, Eric E
Publication Date: 2019-08-22
Variant appearance in text: NF1: 3314+2T>C
PubMed Link:
31443423
Variant Present in the following documents:
Main text
genes-10-00633.pdf
View BVdb publication page
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Molecular Genetics & Genomic Medicine
Zheng, Jianchao J; Zhang, Hongyun H; Banerjee, Santasree S; Li, Yun Y; Zhou, Junyu J; Yang, Qian Q; Tan, Xuemei X; Han, Peng P; Fu, Qinmei Q; Cui, Xiaoli X; Yuan, Yuying Y; Zhang, Meiyan M; Shen, Ruiqin R; Song, Haifeng H; Zhang, Xiuqing X; Zhao, Lijian L; Peng, Zhiyu Z; Wang, Wei W; Yin, Ye Y
Publication Date: 2019-07
Variant appearance in text: NF1: 3314+2T>C
PubMed Link:
31165590
Variant Present in the following documents:
MGG3-7-e00748-s004.xlsx, sheet 1
View BVdb publication page