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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PDHB

Variant:p.Y63*

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PDHB

NM_000925.4:p.Y63*

hg38:chr3:58431892 A>T

Associated Papers

Distinct retinal deficits in a zebrafish pyruvate dehydrogenase-deficient mutant.

Maurer CM et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2010

20826660 (PubMed )

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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."