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Q34151650-B709E7B1-35E1-4469-8570-6E6BA85BA351
Q34151650-B709E7B1-35E1-4469-8570-6E6BA85BA351
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http://www.wikidata.org/entity/statement/Q34151650-B709E7B1-35E1-4469-8570-6E6BA85BA351
Clinical, biochemical and molecular analysis of 13 Japanese patients with β-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
P2860
Q34151650-B709E7B1-35E1-4469-8570-6E6BA85BA351
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34151650-B709E7B1-35E1-4469-8570-6E6BA85BA351
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wasDerivedFrom
a763cfc98c8f714c77a25e1f8c17c8b0d557eacb
P2860
Defects in pyrimidine degradation identified by HPLC-electrospray tandem mass spectrometry of urine specimens or urine-soaked filter paper strips.