NP258972.RAkeDHWb-1D-nV238OaxZVpS-b67KOqbNhJ- hztrCja0
has assertion: NP258972.RAkeDHWb-1D-nV238OaxZVpS-b67KOqbNhJ- hztrCja0130 assertion
has provenance: NP258972.RAkeDHWb-1D-nV238OaxZVpS-b67KOqbNhJ- hztrCja0130 provenance
has publication info: NP258972.RAkeDHWb-1D-nV238OaxZVpS-b67KOqbNhJ- hztrCja0130 publicationInfo
type: Nanopublication
created: 2016-05-13T12:43:43+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetv3.0rdf
authored by: http://orcid.org/0000-0001-5999-6269
authored by: http://orcid.org/0000-0002-7534-7661
authored by: 0000-0002-9383-528X
authored by: http://orcid.org/0000-0003-0169-8159
authored by: http://orcid.org/0000-0003-1244-7654
created by: http://orcid.org/0000-0003-0169-8159
version: v4.0.0.0

NP258972.RAkeDHWb-1D-nV238OaxZVpS-b67KOqbNhJ- hztrCja0130 assertion
type: Assertion
description: [A survey of fibroblasts and lymphoblasts demonstrated that lack of activity was associated with LINCL arising from mutations in the CLN2 gene but not other neuronal ceroid lipofuscinoses (NCLs), including the CLN6 variant LINCL, classical infantile NCL, classical juvenile NCL, and adult NCL (Kufs' disease).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/10428067
was generated by: ECO_0000203

befree-2016
imported on: 2016-02-19

DisGeNET evidence - LITERATURE
type: ECO_0000212
comment: Gene-disease associations inferred from text-mining the literature.

disgenetv3.0rdf
version: v4.0.0