NOS1AP c.453+3380C>T

Variant ID: 1-162306295-C-T

NM_014697.2(NOS1AP):c.453+3380C>T

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation of ATF6 causes autosomal recessive achromatopsia.

Human Genetics
Ansar, Muhammad M; Santos-Cortez, Regie Lyn P RL; Saqib, Muhammad Arif Nadeem MA; Zulfiqar, Fareeha F; Lee, Kwanghyuk K; Ashraf, Naeem Mahmood NM; Ullah, Ehsan E; Wang, Xin X; Sajid, Sundus S; Khan, Falak Sher FS; Amin-ud-Din, Muhammad M; , ; Smith, Joshua D JD; Shendure, Jay J; Bamshad, Michael J MJ; Nickerson, Deborah A DA; Hameed, Abdul A; Riazuddin, Saima S; Ahmed, Zubair M ZM; Ahmad, Wasim W; Leal, Suzanne M SM
Publication Date: 2015-09

Variant appearance in text: rs6700867
PubMed Link: 26063662
Variant Present in the following documents:
  • Main text
  • 439_2015_Article_1571.pdf
View BVdb publication page