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Q37685976-6795CB5D-2B78-44BC-B3B4-B19FE23F3B50
Q37685976-6795CB5D-2B78-44BC-B3B4-B19FE23F3B50
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Statement
http://www.wikidata.org/entity/statement/Q37685976-6795CB5D-2B78-44BC-B3B4-B19FE23F3B50
A 3 base pair deletion in TBX1 leads to reduced protein expression and transcriptional activity.
P2860
Q37685976-6795CB5D-2B78-44BC-B3B4-B19FE23F3B50
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37685976-6795CB5D-2B78-44BC-B3B4-B19FE23F3B50
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wasDerivedFrom
0efa66113a7d8b3aa866ae15a5440b1dddb417f2
P2860
A-TWinnipeg: Pathogenesis of rare ATM missense mutation c.6200C>A with decreased protein expression and downstream signaling, early-onset dystonia, cancer, and life-threatening radiotoxicity