Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.G251Splc
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PC

NM_001040716.2:p.G251Splc

Associated Papers

Pyruvate carboxylase deficiency type A and type C: Characterization of five novel pathogenic variants in PC and analysis of the genotype-phenotype correlation.

Coci EG et al.

Human Mutation, 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."