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Q48231221-001AA77A-3A64-4DE5-BA66-5E00A7EABDCD
Q48231221-001AA77A-3A64-4DE5-BA66-5E00A7EABDCD
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Statement
http://www.wikidata.org/entity/statement/Q48231221-001AA77A-3A64-4DE5-BA66-5E00A7EABDCD
Detailed molecular characterization of a novel IDS exonic mutation associated with multiple pseudoexon activation.
P2860
Q48231221-001AA77A-3A64-4DE5-BA66-5E00A7EABDCD
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48231221-001AA77A-3A64-4DE5-BA66-5E00A7EABDCD
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wasDerivedFrom
19a90f465659b56fcea377d76fc7a398873cad24
P2860
The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.