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Q24318956-A1D08E83-0491-46FE-AD24-9B8EAF4AD381
Q24318956-A1D08E83-0491-46FE-AD24-9B8EAF4AD381
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24318956-A1D08E83-0491-46FE-AD24-9B8EAF4AD381
Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)
P2860
Q24318956-A1D08E83-0491-46FE-AD24-9B8EAF4AD381
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24318956-A1D08E83-0491-46FE-AD24-9B8EAF4AD381
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wasDerivedFrom
b9f7e744c897e98b2ef03e44d7dd5c7d476e6662
P2860
PMM (PMM1), the human homologue of SEC53 or yeast phosphomannomutase, is localized on chromosome 22q13