wikimedia
/
wikidata
/
Login
Register
TriplyDB
Wikidata
Browser
Table
SPARQL
Graphs
1
1
Services
1
1
Assets
0
0
Insights
Schema
BETA
Class frequency
Class hierarchy
J.AJHG.2018.04.010
J.AJHG.2018.04.010
http://dx.doi.org/10.1016/J.AJHG.2018.04.010
Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome.
P356
Q55100675-92A975BB-9CAB-46A6-B2D8-AFB2C37F44EC
P356
J.AJHG.2018.04.010
http://dx.doi.org/10.1016/J.AJHG.2018.04.010