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Q35609938-12FDE03B-4314-4192-82D8-BC2E81E67748
Q35609938-12FDE03B-4314-4192-82D8-BC2E81E67748
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35609938-12FDE03B-4314-4192-82D8-BC2E81E67748
Application of multiplex ligation-dependent probe amplification, and identification of a heterozygous Alu-associated deletion and a uniparental disomy of chromosome 1 in two patients with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency.
P2860
Q35609938-12FDE03B-4314-4192-82D8-BC2E81E67748
BestRank
Statement
http://www.wikidata.org/entity/statement/Q35609938-12FDE03B-4314-4192-82D8-BC2E81E67748
rank
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type
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Statement
wasDerivedFrom
4183c1c45c04575b99fde3c02eb58fa13ca2abd4
P2860
Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1