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Literature summary for
4.2.1.2
extracted from
Remes, A.M.; Filppula, S.A.; Rantala, H.; Leisti, J.; Ruokonen, A.; Sharma, S.; Juffer, A.H.; Hiltunen, J.K.
A novel mutation of the fumarase gene in a family with autosomal recessive fumarase deficiency
(2004),
J. Mol. Med.
, 82, 550-554.
Search for more literature for 4.2.1.2
Organism
Organism
UniProt
Comment
Textmining
Homo sapiens
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homozygous carriers of the mutation Q376P suffer from severe encephalopthy and die at a young age
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