Matches in Nanopublications for { <http://rdf.disgenet.org/resource/nanopub/NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_assertion> ?p ?o ?g. }
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- NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_assertion type Assertion NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_head.
- NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_assertion description "[A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_provenance.
- NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_assertion evidence source_evidence_curated NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_provenance.
- NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_assertion SIO_000772 23065719 NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_provenance.
- NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_assertion wasDerivedFrom uniprot-2016 NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_provenance.
- NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_assertion wasGeneratedBy ECO_0000218 NP7250.RANHvFpZ5hCgQO7a1NQPIF6HlviCXnDqACVtPhGbj2y9w130_provenance.