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Q37187461-08A84BE6-A321-4C6F-A38A-34F133302A41
Q37187461-08A84BE6-A321-4C6F-A38A-34F133302A41
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37187461-08A84BE6-A321-4C6F-A38A-34F133302A41
Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
P2860
Q37187461-08A84BE6-A321-4C6F-A38A-34F133302A41
BestRank
Statement
http://www.wikidata.org/entity/statement/Q37187461-08A84BE6-A321-4C6F-A38A-34F133302A41
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Statement
wasDerivedFrom
c871d6f2eb074168217e8cbd7cb3204e2b697664
P2860
A prevalent C3 mutation in aHUS patients causes a direct C3 convertase gain of function.