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Q33155088-45C72B6B-E0E4-4B9E-8E11-8451E543B164
Q33155088-45C72B6B-E0E4-4B9E-8E11-8451E543B164
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http://www.wikidata.org/entity/statement/Q33155088-45C72B6B-E0E4-4B9E-8E11-8451E543B164
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
P2860
Q33155088-45C72B6B-E0E4-4B9E-8E11-8451E543B164
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33155088-45C72B6B-E0E4-4B9E-8E11-8451E543B164
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wasDerivedFrom
6457e1eb7cd2c798a3d6181a1da85179d31c7534
P2860
Truncated KCNQ1 mutant, A178fs/105, forms hetero-multimer channel with wild-type causing a dominant-negative suppression due to trafficking defect.