Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_assertion> ?p ?o ?g. }
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- NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_assertion type Assertion NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_head.
- NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_assertion description "[Pseudoxanthoma elasticum (PXE) is a heritable connective tissue disorder caused by mutations in an ABC (ATP-Binding Cassette) transporter gene (ABCC6), which manifests with cutaneous, ophthalmologic, and cardiovascular findings.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_provenance.
- NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_assertion evidence source_evidence_literature NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_provenance.
- NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_assertion SIO_000772 15086542 NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_provenance.
- NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_assertion wasDerivedFrom befree-20150227 NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_provenance.
- NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_assertion wasGeneratedBy ECO_0000203 NP251305.RAbJllTgxZn9yq4RltxNYI9xYm5_3IC9PSOvrRgHNBpAc130_provenance.