Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_assertion> ?p ?o ?g. }
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- NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_assertion type Assertion NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_head.
- NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_assertion wasGeneratedBy ECO_0000203 NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_provenance.
- NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_assertion wasDerivedFrom befree-2016 NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_provenance.
- NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_assertion SIO_000772 24127307 NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_provenance.
- NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_assertion evidence source_evidence_literature NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_provenance.
- NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_assertion description "[One PHP-Ib patient showed a de novo microdeletion in STX16 and a loss of methylation of exon A/B on the maternal allele.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1119435.RAxv78FCBteYgfD7yxziKfTl1kVULP_oF3ifEzUJj2oqY130_provenance.