NF1 c.5406_5407insT ;(p.I1803Yfs*16)

Variant ID: 17-29654654-C-CT

NM_001042492.2(NF1):c.5406_5407insT;(p.I1803Yfs*16)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genotype-phenotype associations in neurofibromatosis type 1 (NF1): an increased risk of tumor complications in patients with NF1 splice-site mutations?

Human Genomics
Alkindy, Adila A; Chuzhanova, Nadia N; Kini, Usha U; Cooper, David N DN; Upadhyaya, Meena M
Publication Date: 2012-08-13

Variant appearance in text: NF1: 5406insT
PubMed Link: 23244495
Variant Present in the following documents:
  • Main text
  • 1479-7364-6-12.pdf
View BVdb publication page