Varaico: Literature-Extracted Genetic Variants

Gene:PCCA
Variant:p.R548Splc
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PCCA

NM_000282.4:p.R548Splc

Associated Papers

Two frequent mutations associated with the classic form of propionic acidemia in Taiwan.

Chiu YH et al.

Biochemical Genetics, 2014

Mutation analysis in 54 propionic acidemia patients.

Kraus JP et al.

Journal of Inherited Metabolic Disease, 2012

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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."