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Q38801581-86382DF5-9669-4547-8E96-36AF5F0EF4FF
Q38801581-86382DF5-9669-4547-8E96-36AF5F0EF4FF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38801581-86382DF5-9669-4547-8E96-36AF5F0EF4FF
DGAT2 Mutation in a Family with Autosomal-Dominant Early-Onset Axonal Charcot-Marie-Tooth Disease.
P2860
Q38801581-86382DF5-9669-4547-8E96-36AF5F0EF4FF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38801581-86382DF5-9669-4547-8E96-36AF5F0EF4FF
rank
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wasDerivedFrom
9f9eafe437b4a930499dcf990b13ed875e375129
P2860
A mutation in the small heat-shock protein HSPB1 leading to distal hereditary motor neuronopathy disrupts neurofilament assembly and the axonal transport of specific cellular cargoes.