Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_assertion type Assertion NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_head.
- NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_assertion description "[We had previously demonstrated that a complete loss of function in ZMPSTE24 was lethal in the neonatal period, whereas compound heterozygous mutations including one PTC and one missense mutation were associated with type B mandibuloacral dysplasia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_provenance.
- NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_assertion evidence source_evidence_literature NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_provenance.
- NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_assertion SIO_000772 21267004 NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_provenance.
- NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_assertion wasDerivedFrom befree-2016 NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_provenance.
- NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_assertion wasGeneratedBy ECO_0000203 NP867763.RA1jaFfe0g_tCqepbm_XWZrk2eDZuO5UGEm1B-z8mLhPc130_provenance.