Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease. | 22554691 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum. | 17030669 | 2006 |