Varaico: Literature-Extracted Genetic Variants

Gene:PTCD3
Variant:p.P138_C139Splc
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PTCD3

NM_017952.6:p.P138_C139Splc

Associated Papers

Human Mitoribosome Biogenesis and Its Emerging Links to Disease.

Lopez Sanchez MIG et al.

International Journal of Molecular Sciences, 2021

Mitochondrial ribosomal protein PTCD3 mutations cause oxidative phosphorylation defects with Leigh syndrome.

Borna NN et al.

Neurogenetics, 2019

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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."