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Q30383609-DE211E0E-30A4-4F77-852D-87FDD5458F5E
Q30383609-DE211E0E-30A4-4F77-852D-87FDD5458F5E
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http://www.wikidata.org/entity/statement/Q30383609-DE211E0E-30A4-4F77-852D-87FDD5458F5E
The A31P missense mutation in cardiac myosin binding protein C alters protein structure but does not cause haploinsufficiency.
P2860
Q30383609-DE211E0E-30A4-4F77-852D-87FDD5458F5E
BestRank
Statement
http://www.wikidata.org/entity/statement/Q30383609-DE211E0E-30A4-4F77-852D-87FDD5458F5E
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cf868bf531d167b39ad9652f0d8975a01ad7b11c
P2860
Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency