MAPKBP1 c.115-7004A>C

Variant ID: 15-42085017-A-C

NM_014994.2(MAPKBP1):c.115-7004A>C

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel Usher syndrome pathogenic variants identified in cases with hearing and vision loss.

Bmc Medical Genetics
Pater, Justin A JA; Green, Jane J; O'Rielly, Darren D DD; Griffin, Anne A; Squires, Jessica J; Burt, Taylor T; Fernandez, Sara S; Fernandez, Bridget B; Houston, Jim J; Zhou, Jiayi J; Roslin, Nicole M NM; Young, Terry-Lynn TL
Publication Date: 2019-05-02

Variant appearance in text: rs11070349
PubMed Link: 31046701
Variant Present in the following documents:
  • Main text
  • 12881_2019_Article_777.pdf
View BVdb publication page