Varaico: Literature-Extracted Genetic Variants

Gene:PC
Variant:p.G609Splc
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PC

NM_001040716.2:p.G609Splc

Associated Papers

PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report.

Tao D et al.

Frontiers in Pediatrics, 2022

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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."