http://rdf.disgenet.org/resource/nanopub/NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc
type: Nanopublication
created: 2016-05-13T12:41:50+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

http://rdf.disgenet.org/resource/nanopub/NP190.RACD-Dywj1K0chsnqdoJ1XJJgiDTyoGIpELh6Fc5CwBQc130_assertion
type: Assertion
description: [They also confirm that the extremely high phenotypic heterogeneity observed in patients with hypophosphatasia was due mainly to variable residual enzymatic activities allowed by missense mutations found in the human TNSALP gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - CURATED
SIO_000772: http://identifiers.org/pubmed/10332035
was generated by: ECO_0000218

DisGeNET evidence - CURATED
type: ECO_0000205
comment: Gene-disease associations manually curated.

uniprot-2016
imported on: 2016-01-25

disgenetv3.0rdf
version: v4.0.0