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.




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