Matches in Nanopublications for { <http://rdf.disgenet.org/nanopublications.trig#NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_assertion> ?p ?o ?g. }
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- NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_assertion type Assertion NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_head.
- NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_assertion description "[Mutations in CDH3 gene, encoding P-cadherin, are responsible for hypotrichosis with juvenile macular dystrophy (HJMD), which is a rare autosomal recessive disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_provenance.
- NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_assertion evidence source_evidence_literature NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_provenance.
- NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_assertion SIO_000772 20140736 NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_provenance.
- NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_assertion wasDerivedFrom befree-20140225 NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_provenance.
- NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_assertion wasGeneratedBy ECO_0000203 NP321996.RAD5LYyKt4q-eEo8Y6SY8UEM5ZCS-df_O79Chz5i8XwbA130_provenance.