Associated Papers
Effectiveness of integrated interpretation of exome and corresponding transcriptome data for detecting splicing variants of genes associated with autosomal recessive disorders.
Yamada M et al.
Molecular Genetics and Metabolism Reports, 2019
A heterozygous missense mutation in adolescent-onset very long-chain acyl-CoA dehydrogenase deficiency with exercise-induced rhabdomyolysis.
Hisahara S et al.
The Tohoku Journal of Experimental Medicine, 2015
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