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Q48014395-2BBAA061-2886-4173-A134-821038C49C11
Q48014395-2BBAA061-2886-4173-A134-821038C49C11
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http://www.wikidata.org/entity/statement/Q48014395-2BBAA061-2886-4173-A134-821038C49C11
Molecular Aspects of the FAH Mutations Involved in HT1 Disease.
P2860
Q48014395-2BBAA061-2886-4173-A134-821038C49C11
BestRank
Statement
http://www.wikidata.org/entity/statement/Q48014395-2BBAA061-2886-4173-A134-821038C49C11
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wasDerivedFrom
ef621ba3be94a5cb2944a3294f173248b10acae7
P2860
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation