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Q35577026-CBF90F57-2B61-40DA-ABA2-64FE702182DA
Q35577026-CBF90F57-2B61-40DA-ABA2-64FE702182DA
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http://www.wikidata.org/entity/statement/Q35577026-CBF90F57-2B61-40DA-ABA2-64FE702182DA
Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.
P2860
Q35577026-CBF90F57-2B61-40DA-ABA2-64FE702182DA
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35577026-CBF90F57-2B61-40DA-ABA2-64FE702182DA
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wasDerivedFrom
d501363788eae52d05835533eebd5e695eab206a
P2860
A missense mutation in the alpha-actinin 1 gene (ACTN1) is the cause of autosomal dominant macrothrombocytopenia in a large French family