NF1 c.1062+113A>G

Variant ID: 17-29527726-A-G

NM_001042492.2(NF1):c.1062+113A>G

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Risk of Optic Pathway Glioma in Neurofibromatosis Type 1: No Evidence of Genotype-Phenotype Correlations in A Large Independent Cohort.

Cancers
Melloni, Giulia G; Eoli, Marica M; Cesaretti, Claudia C; Bianchessi, Donatella D; Ibba, Maria Cristina MC; Esposito, Silvia S; Scuvera, Giulietta G; Morcaldi, Guido G; Micheli, Roberto R; Piozzi, Elena E; Avignone, Sabrina S; Chiapparini, Luisa L; Pantaleoni, Chiara C; Natacci, Federica F; Finocchiaro, Gaetano G; Saletti, Veronica V
Publication Date: 2019-11-21

Variant appearance in text: NF1: 1062+113A>G
PubMed Link: 31766501
Variant Present in the following documents:
  • Main text
  • cancers-11-01838.pdf
View BVdb publication page



Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.

Plos One
Kim, Borahm B; Lee, Hyeonah H; Jang, Jieun J; Kim, Soo-Jeong SJ; Lee, Seung-Tae ST; Cheong, June-Won JW; Lyu, Chuhl Joo CJ; Min, Yoo Hong YH; Choi, Jong Rak JR
Publication Date: 2019

Variant appearance in text: NF1: 1062+113A>G
PubMed Link: 30840646
Variant Present in the following documents:
  • pone.0212228.s002.pdf
View BVdb publication page