Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_assertion> ?p ?o ?g. }
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- NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_assertion type Assertion NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_head.
- NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_assertion description "[Mutations of Lig4 are exclusively hypomorphic and have only been described in six patients, four exhibiting mild immunodeficiency associated with microcephaly and developmental delay, while two patient had leukemia.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_provenance.
- NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_assertion evidence source_evidence_literature NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_provenance.
- NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_assertion SIO_000772 16358361 NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_provenance.
- NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_assertion wasDerivedFrom befree-2016 NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_provenance.
- NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_assertion wasGeneratedBy ECO_0000203 NP527282.RAOaoh_KHEOfoJzSrb0EcjVHVoBtPGWzcE79jZy0Yhy2c130_provenance.