Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_assertion> ?p ?o ?g. }
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- NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_assertion type Assertion NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_head.
- NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_assertion description "[NGLY1-related disorder is a newly described autosomal recessive condition characterized by neurological, hepatic, ophthalmological findings and associated with dysmorphic features, constipation and scoliosis.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_provenance.
- NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_assertion evidence source_evidence_literature NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_provenance.
- NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_assertion SIO_000772 25707956 NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_provenance.
- NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_assertion wasDerivedFrom befree-2016 NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_provenance.
- NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_assertion wasGeneratedBy ECO_0000203 NP1265813.RAosS3S5O4s5WgQGMJhBXziaGi22D6JcBTL_GuCebzP1w130_provenance.