Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.G255Splc
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PCCB

NM_000532.5:p.G255Splc

Associated Papers

Novel compound heterozygous variants in the PCCB gene causing adult-onset propionic acidemia presenting with neuropsychiatric symptoms: a case report and literature review.

Li Y et al.

Bmc Medical Genomics, 2022

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.

Laemmle A et al.

European Journal of Pediatrics, 2014

Unusual presentation of propionic acidaemia as isolated cardiomyopathy.

Lee TM et al.

Journal of Inherited Metabolic Disease, 2009

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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."