NF1 c.6056dup ;(p.T2020Nfs*10)

Variant ID: 17-29663399-G-GC

NM_001042492.2(NF1):c.6056dup;(p.T2020Nfs*10)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Can the diagnosis of NF1 be excluded clinically? A lack of pigmentary findings in families with spinal neurofibromatosis demonstrates a limitation of clinical diagnosis.

Journal Of Medical Genetics
Burkitt Wright, Emma Mm EM; Sach, Emma E; Sharif, Saba S; Quarrell, Oliver O; Carroll, Thomas T; Whitehouse, Richard W RW; Upadhyaya, Meena M; Huson, Susan M SM; Evans, D Gareth R DG
Publication Date: 2013-09

Variant appearance in text: NF1: 6056dup
PubMed Link: 23812910
Variant Present in the following documents:
  • Main text
  • jmedgenet-2013-101648.pdf
View BVdb publication page