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Q34980853-6FE3408A-0857-4963-B2AE-448FAF6261C2
Q34980853-6FE3408A-0857-4963-B2AE-448FAF6261C2
BestRank
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http://www.wikidata.org/entity/statement/Q34980853-6FE3408A-0857-4963-B2AE-448FAF6261C2
An AP4B1 frameshift mutation in siblings with intellectual disability and spastic tetraplegia further delineates the AP-4 deficiency syndrome.
P2860
Q34980853-6FE3408A-0857-4963-B2AE-448FAF6261C2
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34980853-6FE3408A-0857-4963-B2AE-448FAF6261C2
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wasDerivedFrom
b37c458a6dc373f522b2358f20c950febb3a9521
P2860
Disruption of AP1S1, causing a novel neurocutaneous syndrome, perturbs development of the skin and spinal cord