Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_assertion> ?p ?o ?g. }
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- NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_assertion type Assertion NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_head.
- NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_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." NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_provenance.
- NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_assertion evidence source_evidence_literature NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_provenance.
- NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_assertion SIO_000772 16358361 NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_provenance.
- NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_assertion wasDerivedFrom befree-20150227 NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_provenance.
- NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_assertion wasGeneratedBy ECO_0000203 NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_provenance.