Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_assertion type Assertion NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_head.
- NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_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." NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_provenance.
- NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_assertion evidence source_evidence_literature NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_provenance.
- NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_assertion SIO_000772 16033915 NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_provenance.
- NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_assertion wasDerivedFrom befree-20140225 NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_provenance.
- NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_assertion wasGeneratedBy ECO_0000203 NP293954.RAJWFPqx--9KPjeDp3CZpuosDaPJrBbNt8xXB6TE8mzr0130_provenance.