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Q41097837-1B36E3F2-193D-4EF8-B8CC-1BBDFD8E79EB
Q41097837-1B36E3F2-193D-4EF8-B8CC-1BBDFD8E79EB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41097837-1B36E3F2-193D-4EF8-B8CC-1BBDFD8E79EB
A novel nonsense ATP7A pathogenic variant in a family exhibiting a variable occipital horn syndrome phenotype
P2860
Q41097837-1B36E3F2-193D-4EF8-B8CC-1BBDFD8E79EB
BestRank
Statement
http://www.wikidata.org/entity/statement/Q41097837-1B36E3F2-193D-4EF8-B8CC-1BBDFD8E79EB
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Statement
wasDerivedFrom
071ed4d77bbdfd4cb3a0c3a00ef010f8daa58e6b
P2860
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease