Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_assertion> ?p ?o ?g. }
Showing items 1 to 6 of
6
with 100 items per page.
- NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_assertion type Assertion NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_head.
- NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_assertion wasGeneratedBy ECO_0000203 NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_provenance.
- NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_assertion wasDerivedFrom befree-2016 NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_provenance.
- NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_assertion SIO_000772 21091464 NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_provenance.
- NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_assertion evidence source_evidence_literature NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_provenance.
- NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_assertion description "[We present a family with two affected boys compatible with X-linked inheritance of a phenotype of severe neurodevelopmental disorder co-segregating with a deletion in Xp22.11 exclusively containing the PTCHD1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP853488.RApwACpsSJC4W5DMGKFj2NpWcrYfr6uCExhvVnLtk4Qdw130_provenance.