Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.R51H
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PC

NM_001040716.2:p.R51H

Associated Papers

Case Report: Prenatal neurological injury in a neonate with pyruvate carboxylase deficiency type B.

Xue M

Frontiers in Endocrinology, 2023

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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."