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Q24564737-AB8AD347-F92D-49D1-B8A1-882DFF69A756
Q24564737-AB8AD347-F92D-49D1-B8A1-882DFF69A756
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24564737-AB8AD347-F92D-49D1-B8A1-882DFF69A756
Congenital hypothyroidism due to mutations in the sodium/iodide symporter. Identification of a nonsense mutation producing a downstream cryptic 3' splice site
P2860
Q24564737-AB8AD347-F92D-49D1-B8A1-882DFF69A756
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24564737-AB8AD347-F92D-49D1-B8A1-882DFF69A756
rank
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type
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Statement
wasDerivedFrom
1d9d5c127292256842a12dc4e4ce19b81232cdcf
P2860
Mutations of CpG dinucleotides located in the triiodothyronine (T3)-binding domain of the thyroid hormone receptor (TR) beta gene that appears to be devoid of natural mutations may not be detected because they are unlikely to produce the clinical ph