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Q38208766-8ECC116C-B286-43A4-A474-D2B4A6C4554C
Q38208766-8ECC116C-B286-43A4-A474-D2B4A6C4554C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38208766-8ECC116C-B286-43A4-A474-D2B4A6C4554C
Defects of thiamine transport and metabolism.
P2860
Q38208766-8ECC116C-B286-43A4-A474-D2B4A6C4554C
BestRank
Statement
http://www.wikidata.org/entity/statement/Q38208766-8ECC116C-B286-43A4-A474-D2B4A6C4554C
rank
NormalRank
type
BestRank
Statement
wasDerivedFrom
18f54a91adbab5c84495d1093c98ee81ef17df56
P2860
A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.