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Q50991536-BB894925-C9EA-4928-BCFD-7B42EB4BFF65
Q50991536-BB894925-C9EA-4928-BCFD-7B42EB4BFF65
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50991536-BB894925-C9EA-4928-BCFD-7B42EB4BFF65
The missense Thr211Pro mutation in the factor X activation peptide of a bleeding patient causes molecular defect in the clotting cascade.
P2860
Q50991536-BB894925-C9EA-4928-BCFD-7B42EB4BFF65
BestRank
Statement
http://www.wikidata.org/entity/statement/Q50991536-BB894925-C9EA-4928-BCFD-7B42EB4BFF65
rank
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type
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wasDerivedFrom
5ff4e2c962105e27cf421e6dae870523484baeda
P2860
Whole exome sequencing in a patient with uniparental disomy of chromosome 2 and a complex phenotype.