Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
0.020 | GeneticVariation | BEFREE | This report of vision and hearing loss in a 3 year-old girl describes the youngest documented case of ADNIV due to a de novo pathogenic c.865C>T (p.Arg289Trp) CAPN5 variant, illustrating the early stages of this enigmatic disease process. | 30986125 | 2019 |
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|
0.020 | GeneticVariation | BEFREE | The novel CAPN5 mutation (p.R289W) is responsible for the present ADNIV family. | 29610848 | 2018 |