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Q56568065-EA282947-3707-4E90-B870-BABD8B3A0782
Q56568065-EA282947-3707-4E90-B870-BABD8B3A0782
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http://www.wikidata.org/entity/statement/Q56568065-EA282947-3707-4E90-B870-BABD8B3A0782
‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
P2860
Q56568065-EA282947-3707-4E90-B870-BABD8B3A0782
BestRank
Statement
http://www.wikidata.org/entity/statement/Q56568065-EA282947-3707-4E90-B870-BABD8B3A0782
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24fd19d4c7d8d45b04475f849fc397e9258260f4
P2860
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.