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- source_evidence_literature type ECO_0000212 NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_provenance.
- 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.
- befree-20150227 importedOn "2015-02-27" NP536710.RAXU1p6GhEXZNhMozXINLv1lmjXkJrv9aLNo3yKj5i_eo130_provenance.