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Q33943860-BF90A148-E92E-44E7-830F-C5D57B0DB7C5
Q33943860-BF90A148-E92E-44E7-830F-C5D57B0DB7C5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33943860-BF90A148-E92E-44E7-830F-C5D57B0DB7C5
A short in-frame deletion in NTRK1 tyrosine kinase domain caused by a novel splice site mutation in a patient with congenital insensitivity to pain with anhidrosis.
P2860
Q33943860-BF90A148-E92E-44E7-830F-C5D57B0DB7C5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q33943860-BF90A148-E92E-44E7-830F-C5D57B0DB7C5
rank
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type
BestRank
Statement
wasDerivedFrom
6c9d71eabf902626c3d85adbbdc9287cf2ecba84
P2860
Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis.