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Q46423654-2854242A-E7AE-4A78-B646-0B58C5FA2A23
Q46423654-2854242A-E7AE-4A78-B646-0B58C5FA2A23
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46423654-2854242A-E7AE-4A78-B646-0B58C5FA2A23
Twenty-five novel mutations including duplications in the ATP7A gene.
P2860
Q46423654-2854242A-E7AE-4A78-B646-0B58C5FA2A23
BestRank
Statement
http://www.wikidata.org/entity/statement/Q46423654-2854242A-E7AE-4A78-B646-0B58C5FA2A23
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wasDerivedFrom
0b944b713e49ba8e66480dfd867fd167b334da52
P2860
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease