NP384435.RA8 wP9vEiqRHV xu9cvkfdw-zvTanZySolCProJIKyvI
has assertion: NP384435.RA8 wP9vEiqRHV xu9cvkfdw-zvTanZySolCProJIKyvI130 assertion
has provenance: NP384435.RA8 wP9vEiqRHV xu9cvkfdw-zvTanZySolCProJIKyvI130 provenance
has publication info: NP384435.RA8 wP9vEiqRHV xu9cvkfdw-zvTanZySolCProJIKyvI130 publicationInfo
type: Nanopublication
created: 2016-05-13T12:44:39+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

NP384435.RA8 wP9vEiqRHV xu9cvkfdw-zvTanZySolCProJIKyvI130 assertion
type: Assertion
description: [We screened for ATOX1 mutations in two patients with classical Menkes disease phenotypes and one individual with occipital horn syndrome who had no alterations detected in ATP7A, as well as an adult female with chronic anemia, low serum copper and evidence of mild dopamine-beta-hydroxylase deficiency and no alterations in the ATOX1 coding or splice junction sequences were found.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/12594858
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