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> .
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http://identifiers.org/ncbigene/
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http://identifiers.org/pubmed/
> .
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> .
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> .
@prefix prv: <
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@prefix dcterms: <
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> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
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http://rdf.disgenet.org/v4.0.0/void/
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a
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dgn-np:NP315700.RA3N6DXylqQgcZBvfca0qxXD8y2jfTGSCUw1IV3UWxJt8130_assertion
dcterms:description
"[We describe the application of the novel technique of Glycosylase Mediated Polymorphism Detection (GMPD) to the detection of two of the most common mutations of the PAH gene in the Irish population that cause phenylketonuria (PKU), R408W and I65T, which occur at relative frequencies of 41.0% and 10.4% respectively.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
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xsd:date
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xsd:dateTime
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