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Q48154773-E3F60779-62A2-48FC-954C-5DC1ACC0EE30
Q48154773-E3F60779-62A2-48FC-954C-5DC1ACC0EE30
BestRank
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http://www.wikidata.org/entity/statement/Q48154773-E3F60779-62A2-48FC-954C-5DC1ACC0EE30
Clinical whole exome sequencing from dried blood spot identifies novel genetic defect underlying asparagine synthetase deficiency.
P2860
Q48154773-E3F60779-62A2-48FC-954C-5DC1ACC0EE30
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48154773-E3F60779-62A2-48FC-954C-5DC1ACC0EE30
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wasDerivedFrom
53fa798792ee82c419381d41bd9175923c3e247c
P2860
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.