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Q24564737-2015FEBC-702D-4836-BB9F-B1AD95EA79E4
Q24564737-2015FEBC-702D-4836-BB9F-B1AD95EA79E4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24564737-2015FEBC-702D-4836-BB9F-B1AD95EA79E4
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site
P2860
Q24564737-2015FEBC-702D-4836-BB9F-B1AD95EA79E4
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24564737-2015FEBC-702D-4836-BB9F-B1AD95EA79E4
rank
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type
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Statement
wasDerivedFrom
a18dcf96c8c87531d895c602ca923e8d2a4e22c5
P2860
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