Table_1.xls (5.5 kB)
GPCR gene variations identified in type 1 VWD patients and their predicted effects.
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posted on 2015-12-02, 02:54 authored by Jacqueline Stockley, Shaista P. Nisar, Vincenzo C. Leo, Essa Sabi, Margaret R. Cunningham, Jeroen C. Eikenboom, Stefan Lethagen, Reinhard Schneppenheim, Anne C. Goodeve, Steve P. Watson, Stuart J. Mundell, Martina E. DalySNV = Single nucleotide variation; MAF = Minor Allele Frequency;
* co-inherited SNVs identified in index case P3.
GPCR gene variations identified in type 1 VWD patients and their predicted effects.
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platelet P 2Y ADP receptor genetype 1 von Willebrand disease patients.402CP 2RYtype 1 von Willebrand diseasePAR 1 expressionnucleotide variation146 index casesPAR 4 receptor expressionTBXA 2R variationp.L 355F substitutionF 2RL8 index casesheterologous expression analysisnucleotide variationsc .1063C transitiongpcrF 2R transcriptional activityPTGIRp.T 22N PAR 4 variant
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