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Q50357721-7A8591BD-2301-4AA1-9AC9-FB558259C624
Q50357721-7A8591BD-2301-4AA1-9AC9-FB558259C624
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50357721-7A8591BD-2301-4AA1-9AC9-FB558259C624
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
P2860
Q50357721-7A8591BD-2301-4AA1-9AC9-FB558259C624
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50357721-7A8591BD-2301-4AA1-9AC9-FB558259C624
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Statement
wasDerivedFrom
ada0b710f93d7c16e5b7b13e9d683e21fa08ce21
P2860
A novel dominant mutation in SIX1, affecting a highly conserved residue, result in only auditory defects in humans.