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Q24534049-F3C4D10A-A495-4B76-A707-6D9EE779A78C
Q24534049-F3C4D10A-A495-4B76-A707-6D9EE779A78C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24534049-F3C4D10A-A495-4B76-A707-6D9EE779A78C
Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).
P2860
Q24534049-F3C4D10A-A495-4B76-A707-6D9EE779A78C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24534049-F3C4D10A-A495-4B76-A707-6D9EE779A78C
rank
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type
BestRank
Statement
wasDerivedFrom
7ccde1833f98d25c2c2b454ee051660b438a4db0
P2860
Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1