Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_provenance.
- NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_assertion description "[Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_provenance.
- NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_assertion evidence source_evidence_curated NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_provenance.
- NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_assertion SIO_000772 25848753 NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_provenance.
- NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_assertion wasDerivedFrom ctd_human-2016 NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_provenance.
- NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_assertion wasGeneratedBy ECO_0000218 NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_provenance.
- ctd_human-2016 importedOn "2016-01-25" NP35376.RAbiM6rXmrz3KZh_aCQ44cdhnfaTz5jDLN6hnWZeibX2U130_provenance.