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Q24672499-1BE5178E-84E4-47BE-8E1D-B714E7384B3B
Q24672499-1BE5178E-84E4-47BE-8E1D-B714E7384B3B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24672499-1BE5178E-84E4-47BE-8E1D-B714E7384B3B
Exon redefinition by a point mutation within exon 5 of the glucose-6-phosphatase gene is the major cause of glycogen storage disease type 1a in Japan
P2860
Q24672499-1BE5178E-84E4-47BE-8E1D-B714E7384B3B
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24672499-1BE5178E-84E4-47BE-8E1D-B714E7384B3B
rank
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type
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Statement
wasDerivedFrom
711f96059a9a8e3ce02d62743dbb9678b590c8e6
P2860
A splice junction mutation causes deletion of a 72-base exon from the mRNA for lysosomal acid lipase in a patient with cholesteryl ester storage disease.