Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.F391S
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PCCB

NM_000532.5:p.F391S

Associated Papers

Comparison of Untargeted Metabolomic Profiling vs Traditional Metabolic Screening to Identify Inborn Errors of Metabolism.

Liu N et al.

Jama Network Open, 2021

34251446 (PubMed )
Supplement: jamanetwopen-e2114155-s001.pdf

Long term follow-up of the dietary intake in propionic acidemia.

Mobarak A et al.

Molecular Genetics and Metabolism Reports, 2021

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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."