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Q28367963-11ECF461-413E-4C67-9127-9094840A9BD0
Q28367963-11ECF461-413E-4C67-9127-9094840A9BD0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28367963-11ECF461-413E-4C67-9127-9094840A9BD0
A novel frameshift mutation in exon 23 of ATP7A (MNK) results in occipital horn syndrome and not in Menkes disease
P2860
Q28367963-11ECF461-413E-4C67-9127-9094840A9BD0
BestRank
Statement
http://www.wikidata.org/entity/statement/Q28367963-11ECF461-413E-4C67-9127-9094840A9BD0
rank
NormalRank
type
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Statement
wasDerivedFrom
aaf6a33b867b735581da7732523cb8da4ef36d6d
P2860
C-terminal truncations destabilize the cystic fibrosis transmembrane conductance regulator without impairing its biogenesis. A novel class of mutation.