| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.840 | GeneticVariation | UNIPROT | Galactosemia: a strategy to identify new biochemical phenotypes and molecular genotypes. | 7887416 | 1995 |
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|
0.840 | GeneticVariation | UNIPROT | Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. | 25592817 | 2015 |
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|
0.840 | GeneticVariation | UNIPROT | Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. | 9222760 | 1997 |
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|
T | 0.840 | CausalMutation | CLINVAR | Analysis of galactosemia-linked mutations of GALT enzyme using a computational biology approach. | 20008339 | 2010 |
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|
T | 0.840 | CausalMutation | CLINVAR | Molecular heterogeneity of classical and Duarte galactosemia: mutation analysis by denaturing gradient gel electrophoresis. | 9222760 | 1997 |
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|
0.840 | GeneticVariation | UNIPROT | Three new mutations (P183T, V150L, 528insG) and eleven sequence polymorphisms in Italian patients with galactose-1-phosphate uridyltransferase (GALT) deficiency. | 8956044 | 1996 |
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|
0.840 | GeneticVariation | BEFREE | K285N is one of the most frequent classical galactosemia mutations in the Slovenian population. | 17303100 | 2007 |
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|
0.840 | GeneticVariation | UNIPROT | Functional and structural impact of the most prevalent missense mutations in classic galactosemia. | 25614870 | 2014 |
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|
T | 0.840 | CausalMutation | CLINVAR | Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene. | 25592817 | 2015 |