http://rdf.disgenet.org/nanopublications.trig#NP700020.RAc_A4KiFcC2hXefXCB8VcJCUiFRDCs2j6c2RQEh9E6Vs
type: Nanopublication
created: 2014-10-02T12:39:05+02:00
rights: http://opendatacommons.org/licenses/odbl/1.0/
rights holder: IBIGroup
subject: SIO_000983
used data: disgenetrdf
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: v2.1.0.0

http://rdf.disgenet.org/nanopublications.trig#NP700020.RAc_A4KiFcC2hXefXCB8VcJCUiFRDCs2j6c2RQEh9E6Vs130_assertion
type: Assertion
description: [Fluorescent in situ hybridization analysis demonstrated that the PWS critical region resided on the derivative chromosome 3 and that there was no deletion of the PWS region on the normal pair of 15s present in J.B. Methylation analysis at exon alpha of the small nuclear ribonucleoprotein-associated polypeptide N (SNRPN) gene showed a pattern characteristic of only the maternal chromosome 15 in J.B. Maternal disomy was confirmed by polymerase chain reaction analysis of microsatellite repeats at the gamma-aminobutyric acid receptor beta3 subunit (GABRB3) locus.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
evidence: DisGeNET evidence - LITERATURE
SIO_000772: http://identifiers.org/pubmed/9674903
was generated by: ECO_0000203

befree-20140225
imported on: 2014-02-25

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

disgenetrdf
version: v2.1.0