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Q34109408-9BDFDFF6-42F3-4B97-9928-6E4FF8BAD1C5
Q34109408-9BDFDFF6-42F3-4B97-9928-6E4FF8BAD1C5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34109408-9BDFDFF6-42F3-4B97-9928-6E4FF8BAD1C5
PRPS1 mutations: four distinct syndromes and potential treatment.
P2860
Q34109408-9BDFDFF6-42F3-4B97-9928-6E4FF8BAD1C5
BestRank
Statement
http://www.wikidata.org/entity/statement/Q34109408-9BDFDFF6-42F3-4B97-9928-6E4FF8BAD1C5
rank
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type
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wasDerivedFrom
bde4d5b7d251aa60aefbe9c5bbdec42ed5260ec7
P2860
GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia.