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Q42293519-EE85B96D-78D2-4E90-A5B4-831873FEF297
Q42293519-EE85B96D-78D2-4E90-A5B4-831873FEF297
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Statement
http://www.wikidata.org/entity/statement/Q42293519-EE85B96D-78D2-4E90-A5B4-831873FEF297
Single-nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the ACAT1 gene.
P2860
Q42293519-EE85B96D-78D2-4E90-A5B4-831873FEF297
BestRank
Statement
http://www.wikidata.org/entity/statement/Q42293519-EE85B96D-78D2-4E90-A5B4-831873FEF297
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wasDerivedFrom
0448dacb41eac53376d4d7339c8ca5fcfb9e683c
P2860
Molecular and biochemical characterization of a novel intronic single point mutation in a Tunisian family with glycogen storage disease type III.