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Q35196682-08868BD5-F101-47C8-91D1-6E71541087DF
Q35196682-08868BD5-F101-47C8-91D1-6E71541087DF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35196682-08868BD5-F101-47C8-91D1-6E71541087DF
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
P2860
Q35196682-08868BD5-F101-47C8-91D1-6E71541087DF
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35196682-08868BD5-F101-47C8-91D1-6E71541087DF
rank
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type
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Statement
wasDerivedFrom
2041e31a23449cd3af8939244f76c8bc45e96ba3
P2860
A new point mutation within exon 5 of beta-hexosaminidase alpha gene in a Japanese infant with Tay-Sachs disease.