Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.R113Q
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PCCB

NM_000532.5:p.R113Q

Associated Papers

Tandem Mass Spectrometry Screening for Inborn Errors of Metabolism in Newborns and High-Risk Infants in Southern China: Disease Spectrum and Genetic Characteristics in a Chinese Population.

Tan J et al.

Frontiers in Genetics, 2021

Next-generation sequencing as a second-tier diagnostic test for newborn screening.

Luo X et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018

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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."