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DESCRIBE <http://purl.uniprot.org/SHA-384/0F6760C92CEB17FFD3BC5F7291CFDF6948BCE4EE9BF6715601EC836D85E27C065F5BB91808EA7885A677ECFAC2227AFD>
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http://purl.uniprot.org/SHA-384/0F6760C92CEB17FFD3BC5F7291CFDF6948BCE4EE9BF6715601EC836D85E27C065F5BB91808EA7885A677ECFAC2227AFD
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/0F6760C92CEB17FFD3BC5F7291CFDF6948BCE4EE9BF6715601EC836D85E27C065F5BB91808EA7885A677ECFAC2227AFD
http://www.w3.org/2000/01/rdf-schema#comment
"6 new VMD2 mutations were identified located exclusively in exons 4 6 & 8. Q293H is non-functional & inhibits the function of wild-type bestrophin-1 channels in a dominant negative manner."
xsd:string
http://purl.uniprot.org/uniprot/#_EC60F7D5256C56BBDADB158FC6EEE80114F43A54300FEB338BA00629771D529A6B5EF149D341401DB2C7F47F5040045C
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/0F6760C92CEB17FFD3BC5F7291CFDF6948BCE4EE9BF6715601EC836D85E27C065F5BB91808EA7885A677ECFAC2227AFD
http://purl.uniprot.org/uniprot/A0A0S2Z579
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0F6760C92CEB17FFD3BC5F7291CFDF6948BCE4EE9BF6715601EC836D85E27C065F5BB91808EA7885A677ECFAC2227AFD
http://purl.uniprot.org/uniprot/#_A0A0S2Z579-mappedCitation-17287362
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/0F6760C92CEB17FFD3BC5F7291CFDF6948BCE4EE9BF6715601EC836D85E27C065F5BB91808EA7885A677ECFAC2227AFD