Identification of a Novel NF1 Frameshift Variant in a Chinese Family with Neurofibromatosis Type 1

Lignende værker

• Identification of a novel POU4F3 frameshift variant in a Chinese family with autosomal dominant hearing loss
  af: Jie Li, et al.
  Udgivet: (2025-08-01)
• A clinical variant of neurofibromatosis type 1: familial spinal neurofibromatosis with a frameshift mutation in the NF1 gene.
  af: Ars, E, et al.
  Udgivet: (1998)
• Five novel NF1 gene pathogenic variants in 10 different Chinese families with neurofibromatosis type 1
  af: Chen, Linlin, et al.
  Udgivet: (2019)
• A Novel Frameshift Mutation in Neurofibromin 1 Gene in a Chinese Family with Neurofibromatosis Type 1
  af: Dong, Ying-Ying, et al.
  Udgivet: (2017)
• Clinical characteristics and spectrum of NF1 mutations in 12 unrelated Chinese families with neurofibromatosis type 1
  af: Mao, Bin, et al.
  Udgivet: (2018)