ABCA4 c.5018+289T>C

Variant ID: 1-94486507-A-G

NM_000350.2(ABCA4):c.5018+289T>C

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Analysis of the ABCA4 genomic locus in Stargardt disease.

Human Molecular Genetics
Zernant, Jana J; Xie, Yajing Angela YA; Ayuso, Carmen C; Riveiro-Alvarez, Rosa R; Lopez-Martinez, Miguel-Angel MA; Simonelli, Francesca F; Testa, Francesco F; Gorin, Michael B MB; Strom, Samuel P SP; Bertelsen, Mette M; Rosenberg, Thomas T; Boone, Philip M PM; Yuan, Bo B; Ayyagari, Radha R; Nagy, Peter L PL; Tsang, Stephen H SH; Gouras, Peter P; Collison, Frederick T FT; Lupski, James R JR; Fishman, Gerald A GA; Allikmets, Rando R
Publication Date: 2014-12-20

Variant appearance in text: ABCA4: 5018+289T>C
PubMed Link: 25082829
Variant Present in the following documents:
  • Main text
View BVdb publication page