Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.P399R
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PCCB

NM_000532.5:p.P399R

Associated Papers

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias.

Yin K et al.

Clinical Genetics, 2026

Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies.

Dai M et al.

Orphanet Journal of Rare Diseases, 2020

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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."