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Q24801586-07BD1739-64D9-421C-A2CE-CE33CE959C77
Q24801586-07BD1739-64D9-421C-A2CE-CE33CE959C77
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24801586-07BD1739-64D9-421C-A2CE-CE33CE959C77
A missense mutation (Q279R) in the fumarylacetoacetate hydrolase gene, responsible for hereditary tyrosinemia, acts as a splicing mutation
P2860
Q24801586-07BD1739-64D9-421C-A2CE-CE33CE959C77
BestRank
Statement
http://www.wikidata.org/entity/statement/Q24801586-07BD1739-64D9-421C-A2CE-CE33CE959C77
rank
NormalRank
type
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Statement
wasDerivedFrom
f0038fc2cfdd8f2804fc7f908b6f431e3717ba13
P2860
Defects in RNA splicing and the consequence of shortened translational reading frames.