NF1 c.6787_6790del ;(p.Q2263*)

Variant ID: 17-29665125-GCAGA-G

NM_001042492.2(NF1):c.6787_6790del;(p.Q2263*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Translational Vision Science & Technology
Wang, Yuchuan Y; Li, Jun J; Hao, Peng P; Li, Jing J; Han, Ruifang R; Lin, Jinyong J; Li, Xuan X
Publication Date: 2023-02-01

Variant appearance in text: NF1: 6787_6790del
PubMed Link: 36735267
Variant Present in the following documents:
  • tvst-12-2-4_s001.xls, sheet 4
View BVdb publication page



A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology
,
Publication Date: 2022-11-24

Variant appearance in text: NF1: 6787_6790del
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Growth factor independence underpins a paroxysmal, aggressive Wnt5aHigh/EphA2Low phenotype in glioblastoma stem cells, conducive to experimental combinatorial therapy.

Journal Of Experimental & Clinical Cancer Research : Cr
Trivieri, Nadia N; Visioli, Alberto A; Mencarelli, Gandino G; Cariglia, Maria Grazia MG; Marongiu, Laura L; Pracella, Riccardo R; Giani, Fabrizio F; Soriano, Amata Amy AA; Barile, Chiara C; Cajola, Laura L; Copetti, Massimiliano M; Palumbo, Orazio O; Legnani, Federico F; DiMeco, Francesco F; Gorgoglione, Leonardo L; Vescovi, Angelo L AL; Binda, Elena E
Publication Date: 2022-04-12

Variant appearance in text: NF1: 6787_6790del
PubMed Link: 35414102
Variant Present in the following documents:
  • 13046_2022_2333_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page