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Q24681036-14E1D3D1-94DC-47ED-8369-2302F0C4921D
Q24681036-14E1D3D1-94DC-47ED-8369-2302F0C4921D
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Statement
http://www.wikidata.org/entity/statement/Q24681036-14E1D3D1-94DC-47ED-8369-2302F0C4921D
Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients
P2860
Q24681036-14E1D3D1-94DC-47ED-8369-2302F0C4921D
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24681036-14E1D3D1-94DC-47ED-8369-2302F0C4921D
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wasDerivedFrom
5f9417750dc0aad8a4de262ee2acb1fafff2f2fc
P2860
Absence of homozygosity for predominant mutations in PMM2 in Danish patients with carbohydrate-deficient glycoprotein syndrome type 1