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
Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.
Manca A et al.
Journal of Translational Medicine, 2019
31455347 (PubMed )
Supplement: 12967_2019_2039_MOESM1_ESM.xlsx › Discovery_cohort_nsyn_variants
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