Source: ALL
Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
---|---|---|---|---|---|---|---|---|---|---|
|
CG | 0.700 | GeneticVariation | CLINVAR | Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy. | 30301903 | 2018 |
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|
CG | 0.700 | GeneticVariation | CLINVAR | Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations. | 20207543 | 2010 |