Varaico: Literature-Extracted Genetic Variants

Gene:PDHA1
Variant:p.G150R
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PDHA1

NM_000284.4:p.G150R

Associated Papers

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Chao YH et al.

Human Molecular Genetics, 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."