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Q51846625-A0ED9B50-46F6-43B9-9611-38A6F3291E11
Q51846625-A0ED9B50-46F6-43B9-9611-38A6F3291E11
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51846625-A0ED9B50-46F6-43B9-9611-38A6F3291E11
Rundataxin, a novel protein with RUN and diacylglycerol binding domains, is mutant in a new recessive ataxia.
P2860
Q51846625-A0ED9B50-46F6-43B9-9611-38A6F3291E11
BestRank
Statement
http://www.wikidata.org/entity/statement/Q51846625-A0ED9B50-46F6-43B9-9611-38A6F3291E11
rank
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type
BestRank
Statement
wasDerivedFrom
f219f01cf4c4347b635c2a3eaacb10c2e4816244
P2860
Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.