Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_assertion> ?p ?o ?g. }
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- NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_assertion type Assertion NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_head.
- NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_assertion description "[We describe mutations in the PML nuclear body protein Sp110 in the syndrome veno-occlusive disease with immunodeficiency, an autosomal recessive disorder of severe hypogammaglobulinemia, combined T and B cell immunodeficiency, absent lymph node germinal centers, absent tissue plasma cells and hepatic veno-occlusive disease.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_provenance.
- NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_assertion evidence source_evidence_literature NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_provenance.
- NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_assertion SIO_000772 16648851 NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_provenance.
- NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_assertion wasDerivedFrom befree-20140225 NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_provenance.
- NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_assertion wasGeneratedBy ECO_0000203 NP909695.RAFeotQR2WAzx8powWRQdo2i5AaNKAKF4zUTjgUIz60KM130_provenance.