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Fitsioris Xenophon
Fitsioris Xenophon
Compound heterozygosity
Splice site mutation
Biology
Exon
Phenotype
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Mutations in TMEM70, a gene coding for an assembly factor of complex V, can cause a severe encephalocardiomyopathy in the neonatal period as wel as mild non-progressive encephalopathy in adolescence
2010
Rudy Van Coster
Joél Smet
W. Lissens
Boel De Paepe
Sara Seneca
Linda De Meirleir
Martha Spilioti
Fitsioris Xenophon
Athanasios Evangeliou
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Mutations in TMEM70 causes severe encephalocardio-myopathy as wel as mild encephalopathy
2010
Journal of Inherited Metabolic Disease
Rudy Van Coster
Joél Smet
Willy Lissens
Boel De Paepe
Sara Seneca
Linda De Meirleir
Martha Spilioti
Fitsioris Xenophon
Athanasios Evangeliou
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