NF1 c.481_487del ;(p.L161Nfs*2)

Variant ID: 17-29496906-TAGGTTAC-T

NM_001042492.2(NF1):c.481_487del;(p.L161Nfs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine
N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS
Publication Date: 2021-12

Variant appearance in text: NF1: 481_487del; Leu161Asnfs*2
PubMed Link: 34080803
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1631.pdf
View BVdb publication page



Mutational spectrum of NF1 gene in 24 unrelated Egyptian families with neurofibromatosis type 1.

Molecular Genetics & Genomic Medicine
N Abdel-Aziz, Nahla N; Y El-Kamah, Ghada G; A Khairat, Rabab R; R Mohamed, Hanan H; Z Gad, Yehia Y; El-Ghor, Akmal M AM; Amr, Khalda S KS
Publication Date: 2021-06-03

Variant appearance in text: NF1: 481_487del; Leu161Asnfs*2
PubMed Link: 34080803
Variant Present in the following documents:
  • Main text
  • MGG3-9-e1631.pdf
View BVdb publication page