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Q28975762-03A81887-EE12-4BB5-BC74-BABC58127737
Q28975762-03A81887-EE12-4BB5-BC74-BABC58127737
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28975762-03A81887-EE12-4BB5-BC74-BABC58127737
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy
P2860
Q28975762-03A81887-EE12-4BB5-BC74-BABC58127737
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28975762-03A81887-EE12-4BB5-BC74-BABC58127737
rank
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type
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wasDerivedFrom
39e4680ae707067cb8dd4692fff4ecc887625177
P2860
A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.