PC c.3145_3146insC ;(p.E1049Afs*31)

Variant ID: 11-66617083-T-TG

NM_001040716.1(PC):c.3145_3146insC;(p.E1049Afs*31)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A novel mouse model of a patient mucolipidosis II mutation recapitulates disease pathology.

The Journal Of Biological Chemistry
Paton, Leigh L; Bitoun, Emmanuelle E; Kenyon, Janet J; Priestman, David A DA; Oliver, Peter L PL; Edwards, Benjamin B; Platt, Frances M FM; Davies, Kay E KE
Publication Date: 2014-09-26

Variant appearance in text: PC: 3145insC
PubMed Link: 25107912
Variant Present in the following documents:
  • Main text
  • zbc26709.pdf
View BVdb publication page