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Q24672499-75DF2D30-C6BD-4484-A326-3B62D72ADB26
Q24672499-75DF2D30-C6BD-4484-A326-3B62D72ADB26
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24672499-75DF2D30-C6BD-4484-A326-3B62D72ADB26
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
Q24672499-75DF2D30-C6BD-4484-A326-3B62D72ADB26
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24672499-75DF2D30-C6BD-4484-A326-3B62D72ADB26
rank
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type
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wasDerivedFrom
40a0036e99fc4cc1d05bd28a2999c1bd5b2659c6
P2860
A point mutation G----A in exon 12 of the porphobilinogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria