Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_assertion> ?p ?o ?g. }
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- NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_assertion type Assertion NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_head.
- NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_assertion description "[The TBX1 gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_provenance.
- NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_assertion evidence source_evidence_literature NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_provenance.
- NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_assertion SIO_000772 22893440 NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_provenance.
- NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_assertion wasDerivedFrom befree-2016 NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_provenance.
- NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_assertion wasGeneratedBy ECO_0000203 NP1005248.RADl_8ZvvFIcxfxLTNEURdEpevPUQJVobI_IIq9VxZ4bM130_provenance.