Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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|
0.720 | GeneticVariation | BEFREE | In contrast, a more diffuse localization was seen when non-fused GFP and MYBPC1 proteins containing corresponding MYBPC3 amino acid substitutions (R326Q, E334K) that cause hypertrophic cardiomyopathy were expressed. | 20045868 | 2010 |
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0.720 | GeneticVariation | BEFREE | The conclusion is the missense MYBPC3 mutation E334K destabilizes its protein through UPS and may contribute to cardiac dysfunction in HCM through impairment of the ubiquitin-proteasome system. | 18929575 | 2008 |
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|
A | 0.720 | CausalMutation | CLINVAR |