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Q24564644-4EE06696-F759-494B-8C72-895E8216A8D5
Q24564644-4EE06696-F759-494B-8C72-895E8216A8D5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24564644-4EE06696-F759-494B-8C72-895E8216A8D5
A mutation in a mild form of galactosialidosis impairs dimerization of the protective protein and renders it unstable
P2860
Q24564644-4EE06696-F759-494B-8C72-895E8216A8D5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24564644-4EE06696-F759-494B-8C72-895E8216A8D5
rank
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type
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Statement
wasDerivedFrom
ff5e7ecc2fc3d517c2f16fc04e2df743ee6ab348
P2860
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.