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SERAC1 gene

Known as: FLJ14917, SERAC1, serine active site containing 1 
National Institutes of Health

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Genes

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2019
2019
Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland.
2015
2015
First missense mutation outside of SERAC1 lipase domain affecting intracellular cholesterol trafficking
We report the clinical and genetic findings in a Spanish boy who presented MEGDEL syndrome, a very rare inborn error of… 
2015
2015
MEGDEL Syndrome in a Child From Palestine
We report the first Palestinian child manifesting with 3-methylglutaconic aciduria psychomotor delay, muscle hypotonia, sensori… 
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