NF1 c.4083del ;(p.R1362Efs*16)

Variant ID: 17-29576108-CT-C

NM_001042492.2(NF1):c.4083del;(p.R1362Efs*16)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genetic Analyses of the NF1 Gene in Turkish Neurofibromatosis Type I Patients and Definition of three Novel Variants.

Balkan Journal Of Medical Genetics : Bjmg
Ulusal, S D SD; Gürkan, H H; Atlı, E E; Özal, S A SA; Çiftdemir, M M; Tozkır, H H; Karal, Y Y; Güçlü, H H; Eker, D D; Görker, I I
Publication Date: 2017-06-30

Variant appearance in text: NF1: 4082delT
PubMed Link: 28924536
Variant Present in the following documents:
  • Main text
  • bjmg-20-013.pdf
View BVdb publication page