NF1 c.4577+384A>C

Variant ID: 17-29587917-A-C

NM_001042492.2(NF1):c.4577+384A>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: rs4795587
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
View BVdb publication page



A quantitative assessment of the burden and distribution of Lisch nodules in adults with neurofibromatosis type 1.

Investigative Ophthalmology & Visual Science
Boley, Sean S; Sloan, Jennifer L JL; Pemov, Alexander A; Stewart, Douglas R DR
Publication Date: 2009-11

Variant appearance in text: rs4795587
PubMed Link: 19516012
Variant Present in the following documents:
  • Main text
View BVdb publication page