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1
Q34535941-CDC0D147-F5C4-456F-944D-FAB19004DE16
Q34535941-CDC0D147-F5C4-456F-944D-FAB19004DE16
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34535941-CDC0D147-F5C4-456F-944D-FAB19004DE16
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
P50
Q34535941-CDC0D147-F5C4-456F-944D-FAB19004DE16
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34535941-CDC0D147-F5C4-456F-944D-FAB19004DE16
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
de6df1f2574b75eb0a45d7628781e3272c572935
P1545
5
http://www.w3.org/2001/XMLSchema#string
P1932
Massimo Zeviani
http://www.w3.org/2001/XMLSchema#string
P50
Massimo Zeviani