NP530181.RAVvKJTfEEMDZBJJ llu4lH-KK5m-UIIItMMiCsJQhQzw
has assertion: NP530181.RAVvKJTfEEMDZBJJ llu4lH-KK5m-UIIItMMiCsJQhQzw130 assertion
has provenance: NP530181.RAVvKJTfEEMDZBJJ llu4lH-KK5m-UIIItMMiCsJQhQzw130 provenance
has publication info: NP530181.RAVvKJTfEEMDZBJJ llu4lH-KK5m-UIIItMMiCsJQhQzw130 publicationInfo
type: Nanopublication
created: 2016-05-13T12:45:45+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

NP530181.RAVvKJTfEEMDZBJJ llu4lH-KK5m-UIIItMMiCsJQhQzw130 assertion
type: Assertion
description: [Three unusual families were found: (1) 2 young brothers each having a PMP-22 duplication and a missense mutation in the GJB1 (Connexin-32) gene; (2) a 32-year-old woman having a PMP-22 duplication and a 1000-fold CTG repeat expansion in the DMPK gene (DM1 myotonic dystrophy); and (3) a 39-year-old man with a PMP-22 deletion and a missense mutation in the ABCD1 gene (adrenomyeloneuropathy).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/16401743
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