Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_assertion> ?p ?o ?g. }
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- NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_assertion type Assertion NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_head.
- NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_assertion description "[Here, we describe for the first time a severe form of NBS without chromosomal instability in monozygotic twin brothers with profound congenital microcephaly and developmental delay who are compound heterozygotes for the 657del5 and 643C>T(R215W) NBS1 mutations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_provenance.
- NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_assertion evidence source_evidence_literature NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_provenance.
- NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_assertion SIO_000772 16033915 NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_provenance.
- NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_assertion wasDerivedFrom befree-20140225 NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_provenance.
- NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_assertion wasGeneratedBy ECO_0000203 NP741491.RAjLFApVBLdANUAot7eI0vgZA2Mgg2-CBCLjsh03T56mw130_provenance.