Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.R289P
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PCCB

NM_000532.5:p.R289P

Associated Papers

Spectrum of mutations underlying Propionic acidemia and further insight into a genotype-phenotype correlation for the common mutation in Saudi Arabia.

Al-Hamed MH et al.

Molecular Genetics and Metabolism Reports, 2019

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."