Severe autosomal recessive muscular dystrophy of childhood - North African type (disorder), C0410173
Source: ALL
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | GeneticVariation | CLINVAR | Rescue of sarcoglycan mutations by inhibition of endoplasmic reticulum quality control is associated with minimal structural modifications. | 22095924 | 2012 |
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|
A | 0.700 | GeneticVariation | CLINVAR | Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene. | 9781048 | 1998 |
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A | 0.700 | GeneticVariation | CLINVAR | A founder mutation in the gamma-sarcoglycan gene of gypsies possibly predating their migration out of India. | 8968757 | 1996 |