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Q54164592-333F824B-0E09-49F4-A871-22B71A2FCD31
Q54164592-333F824B-0E09-49F4-A871-22B71A2FCD31
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Statement
http://www.wikidata.org/entity/statement/Q54164592-333F824B-0E09-49F4-A871-22B71A2FCD31
A novel large deletion (exons 12, 13) and a missense mutation (p.G46R) in the PAH in a Japanese patient with phenylketonuria.
P2860
Q54164592-333F824B-0E09-49F4-A871-22B71A2FCD31
BestRank
Statement
http://www.wikidata.org/entity/statement/Q54164592-333F824B-0E09-49F4-A871-22B71A2FCD31
rank
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type
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Statement
wasDerivedFrom
8361cd8891879c578a4a83c51b46fefeacf4dc65
P2860
Phenylketonuria mutations in Europe.