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Q24531976-D6CFE5B2-6C1F-474E-B0C7-4CAE4171E37E
Q24531976-D6CFE5B2-6C1F-474E-B0C7-4CAE4171E37E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24531976-D6CFE5B2-6C1F-474E-B0C7-4CAE4171E37E
Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia.
P2860
Q24531976-D6CFE5B2-6C1F-474E-B0C7-4CAE4171E37E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24531976-D6CFE5B2-6C1F-474E-B0C7-4CAE4171E37E
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
99357375bd0233b9de0ad0853ebaf5a964c4b2e3
P2860
Familial dysautonomia is caused by mutations of the IKAP gene.