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Q34535941-02f8c4c3-ac78-4d93-8da3-1722d5d055da
Q34535941-02f8c4c3-ac78-4d93-8da3-1722d5d055da
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34535941-02f8c4c3-ac78-4d93-8da3-1722d5d055da
Nonsense mutation in pseudouridylate synthase 1 (PUS1) in two brothers affected by myopathy, lactic acidosis and sideroblastic anaemia (MLASA).
P31
Q34535941-02f8c4c3-ac78-4d93-8da3-1722d5d055da
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34535941-02f8c4c3-ac78-4d93-8da3-1722d5d055da
rank
NormalRank
type
BestRank
Statement
P31
case report