Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.S341insFs
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PCCA

NM_000282.4:p.S341insFs

Associated Papers

Comparison of Methods of Initial Ascertainment in 58 Cases of Propionic Acidemia Enrolled in the Inborn Errors of Metabolism Information System Reveals Significant Differences in Time to Evaluation and Symptoms at Presentation.

McCrory NM et al.

The Journal of Pediatrics, 2017

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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."