Associated Papers
The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.
Merkevicius K et al.
Brain : a Journal of Neurology, 2025
41239557 (PubMed )
Supplement: awaf430_supplementary_data.pdf
Dosage Compensation in Females with X-Linked Metabolic Disorders.
Juchniewicz P et al.
International Journal of Molecular Sciences, 2021
33925963 (PubMed )
Supplement: ijms-22-04514-s001.zip › Supplementary_File_Table_S3.pdf
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
23819521 (PubMed )
Supplement: 1471-2164-14-S3-S7-S1.xlsx › TCGA
Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex.
Strassburg HM et al.
Neuropediatrics, 2006
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