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Q35196682-09D3E2EB-DB3C-48AC-9708-A01BB1BEE134
Q35196682-09D3E2EB-DB3C-48AC-9708-A01BB1BEE134
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35196682-09D3E2EB-DB3C-48AC-9708-A01BB1BEE134
A third mutation at the CpG dinucleotide of codon 504 and a silent mutation at codon 506 of the HEX A gene.
P2860
Q35196682-09D3E2EB-DB3C-48AC-9708-A01BB1BEE134
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35196682-09D3E2EB-DB3C-48AC-9708-A01BB1BEE134
rank
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Statement
wasDerivedFrom
2041e31a23449cd3af8939244f76c8bc45e96ba3
P2860
A splicing defect due to an exon-intron junctional mutation results in abnormal beta-hexosaminidase alpha chain mRNAs in Ashkenazi Jewish patients with Tay-Sachs disease.