Varaico: Literature-Extracted Genetic Variants

Gene:PCCB
Variant:p.K433_A434insFs
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PCCB

NM_000532.5:p.K433_A434insFs

Associated Papers

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications.

Yorifuji T et al.

Human Genetics, 2002

Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients.

Rodríguez-Pombo P et al.

American Journal of Human Genetics, 1998

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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."