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Q24801586-B6172C41-9B7A-45CC-983E-9BE38E9B7BE8
Q24801586-B6172C41-9B7A-45CC-983E-9BE38E9B7BE8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24801586-B6172C41-9B7A-45CC-983E-9BE38E9B7BE8
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation
P2860
Q24801586-B6172C41-9B7A-45CC-983E-9BE38E9B7BE8
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24801586-B6172C41-9B7A-45CC-983E-9BE38E9B7BE8
rank
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Statement
wasDerivedFrom
7cf9fbcd3eae11f621afbd7e1a0e1c7058194efd
P2860
Different molecular basis for fumarylacetoacetate hydrolase deficiency in the two clinical forms of hereditary tyrosinemia (type I)