Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Structural organization, complete genomic sequences and mutational analyses of the Fukuyama-type congenital muscular dystrophy gene, fukutin. | 11165248 | 2001 |
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|
T | 0.700 | CausalMutation | CLINVAR | A homozygous nonsense mutation in the fukutin gene causes a Walker-Warburg syndrome phenotype. | 14627679 | 2003 |