Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | The role and spectrum of SLC26A4 mutations in Iranian patients with autosomal recessive hereditary deafness. | 25290043 | 2015 |
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C | 0.700 | CausalMutation | CLINVAR | Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment. | 18813951 | 2009 |
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|
C | 0.700 | CausalMutation | CLINVAR | Pendred syndrome in a large consanguineous Brazilian family caused by a homozygous mutation in the SLC26A4 gene. | 19169484 | 2008 |