Varaico: Literature-Extracted Genetic Variants

Gene:PDHB
Variant:p.E14_V15Splc
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PDHB

NM_000925.4:p.E14_V15Splc

Associated Papers

Circulating Cell-Free Mitochondrial DNA in Cerebrospinal Fluid as a Biomarker for Mitochondrial Diseases.

Trifunov S et al.

Clinical Chemistry, 2021

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.

Jou C et al.

Journal of Clinical Medicine, 2019

30634555 (PubMed )
Supplement: jcm-08-00068-s001.pdf

Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.

Yubero D et al.

Mitochondrion, 2016

Severe encephalopathy associated to pyruvate dehydrogenase mutations and unbalanced coenzyme Q10 content.

Asencio C et al.

European Journal of Human Genetics : Ejhg, 2016

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."