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Q34582025-34AF4611-E86B-417F-8055-8B26A3832196
Q34582025-34AF4611-E86B-417F-8055-8B26A3832196
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34582025-34AF4611-E86B-417F-8055-8B26A3832196
Functional copper transport explains neurologic sparing in occipital horn syndrome.
P2860
Q34582025-34AF4611-E86B-417F-8055-8B26A3832196
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34582025-34AF4611-E86B-417F-8055-8B26A3832196
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wasDerivedFrom
aac96f83a097067b929dc2d9ec8b0fd220946fb3
P2860
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease