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Q24678781-189F9969-39E3-4706-83FF-390314581995
Q24678781-189F9969-39E3-4706-83FF-390314581995
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24678781-189F9969-39E3-4706-83FF-390314581995
A C2055T transition in exon 8 of the ATP7A gene is associated with exon skipping in an occipital horn syndrome family
P2860
Q24678781-189F9969-39E3-4706-83FF-390314581995
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24678781-189F9969-39E3-4706-83FF-390314581995
rank
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type
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Statement
wasDerivedFrom
478a8ae0f7ae736c296c1846d61adc909425a2a3
P2860
Occipital horn syndrome and a mild Menkes phenotype associated with splice site mutations at the MNK locus