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Q36188396-A65FF14E-EDE8-4396-8017-2F602133824A
Q36188396-A65FF14E-EDE8-4396-8017-2F602133824A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36188396-A65FF14E-EDE8-4396-8017-2F602133824A
Congenital isolated Iso-Kikuchi syndrome in a newborn.
P2860
Q36188396-A65FF14E-EDE8-4396-8017-2F602133824A
BestRank
Statement
http://www.wikidata.org/entity/statement/Q36188396-A65FF14E-EDE8-4396-8017-2F602133824A
rank
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wasDerivedFrom
cbe7cd05ea5a4744c9e3013cc2ddd195e04e5700
P2860
De novo mutation in ATP6V1B2 impairs lysosome acidification and causes dominant deafness-onychodystrophy syndrome.