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Q48116911-DEC81F7B-81FA-4235-B41F-3CB2B8A8401D
Q48116911-DEC81F7B-81FA-4235-B41F-3CB2B8A8401D
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http://www.wikidata.org/entity/statement/Q48116911-DEC81F7B-81FA-4235-B41F-3CB2B8A8401D
Reply: The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.
P2860
Q48116911-DEC81F7B-81FA-4235-B41F-3CB2B8A8401D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48116911-DEC81F7B-81FA-4235-B41F-3CB2B8A8401D
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52d8b12ea3b94b64dd6c06a0c7fcc757523e2e29
P2860
ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.