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Q49733638-2DD8CC0D-824B-4340-A114-27A7CA3C6E12
Q49733638-2DD8CC0D-824B-4340-A114-27A7CA3C6E12
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Statement
http://www.wikidata.org/entity/statement/Q49733638-2DD8CC0D-824B-4340-A114-27A7CA3C6E12
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder.
P2860
Q49733638-2DD8CC0D-824B-4340-A114-27A7CA3C6E12
BestRank
Statement
http://www.wikidata.org/entity/statement/Q49733638-2DD8CC0D-824B-4340-A114-27A7CA3C6E12
rank
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type
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Statement
wasDerivedFrom
1ad2ff7ec288e153745a8bcbf506abdb033b4f14
P2860
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations