Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | GeneticVariation | CLINVAR | Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort. | 28964290 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | [Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders]. | 29372807 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain. | 27771369 | 2017 |
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|
T | 0.700 | GeneticVariation | CLINVAR | Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. | 18813951 | 2009 |