| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.800 | GeneticVariation | UNIPROT | Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli. | 15890657 | 2005 |
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|
0.800 | GeneticVariation | UNIPROT | Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia. | 15059621 | 2004 |
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|
0.800 | GeneticVariation | UNIPROT | Propionic acidemia: identification of twenty-four novel mutations in Europe and North America. | 12559849 | 2003 |
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|
0.800 | GeneticVariation | UNIPROT | Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications. | 12189489 | 2002 |
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|
0.800 | GeneticVariation | UNIPROT | Effect of PCCB gene mutations on the heteromeric and homomeric assembly of propionyl-CoA carboxylase. | 11749052 | 2001 |
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|
0.800 | GeneticVariation | UNIPROT | Identification of novel mutations in the PCCB gene in European propionic acidemia patients. Mutation in brief no. 253. Online. | 10447268 | 1999 |
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|
0.800 | GeneticVariation | UNIPROT | Human propionyl-CoA carboxylase beta subunit gene: exon-intron definition and mutation spectrum in Spanish and Latin American propionic acidemia patients. | 9683601 | 1998 |
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|
0.800 | GeneticVariation | UNIPROT | Three independent mutations in the same exon of the PCCB gene: differences between Caucasian and Japanese propionic acidaemia. | 8411997 | 1993 |
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|
0.800 | GeneticVariation | UNIPROT | An unusual insertion/deletion in the gene encoding the beta-subunit of propionyl-CoA carboxylase is a frequent mutation in Caucasian propionic acidemia. | 2154743 | 1990 |
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|
C | 0.800 | CausalMutation | CLINVAR |