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DESCRIBE <http://purl.uniprot.org/SHA-384/BCAAB78A89AE80E68917D0F0FF8D33BA86D4FB7231F4AFAF377BE3BCC3C9C6DD51C997C8887F3A6F309C5D3DA8C3E29D>
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http://purl.uniprot.org/SHA-384/BCAAB78A89AE80E68917D0F0FF8D33BA86D4FB7231F4AFAF377BE3BCC3C9C6DD51C997C8887F3A6F309C5D3DA8C3E29D
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.uniprot.org/core/Annotation
http://purl.uniprot.org/SHA-384/BCAAB78A89AE80E68917D0F0FF8D33BA86D4FB7231F4AFAF377BE3BCC3C9C6DD51C997C8887F3A6F309C5D3DA8C3E29D
http://www.w3.org/2000/01/rdf-schema#comment
"study reports an adolescent with Liddle syndrome caused by a novel missense mutation P614L in the PY motif of the ENaC beta subunit. This missense mutation was found in 6 members of the adolescent's family as well"
xsd:string
http://purl.uniprot.org/uniprot/#_511EB17C4915F11433A96B7C350EF1EE46945732F20BBE7C8E45EC09CE17470CB88DAC576714BF48F2370F0E2207B490
http://www.w3.org/1999/02/22-rdf-syntax-ns#subject
http://purl.uniprot.org/SHA-384/BCAAB78A89AE80E68917D0F0FF8D33BA86D4FB7231F4AFAF377BE3BCC3C9C6DD51C997C8887F3A6F309C5D3DA8C3E29D
http://purl.uniprot.org/uniprot/B2R812
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BCAAB78A89AE80E68917D0F0FF8D33BA86D4FB7231F4AFAF377BE3BCC3C9C6DD51C997C8887F3A6F309C5D3DA8C3E29D
http://purl.uniprot.org/uniprot/#_B2R812-mappedCitation-22809657
http://purl.uniprot.org/core/mappedAnnotation
http://purl.uniprot.org/SHA-384/BCAAB78A89AE80E68917D0F0FF8D33BA86D4FB7231F4AFAF377BE3BCC3C9C6DD51C997C8887F3A6F309C5D3DA8C3E29D