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 | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
C | 0.700 | CausalMutation | CLINVAR | Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. | 19770540 | 2009 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Spectrum of mutations in sarcoglycan genes in the Mumbai region of western India: high prevalence of 525del T. | 19770540 | 2009 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. | 17897828 | 2008 |
|||
|
C | 0.700 | GeneticVariation | CLINVAR | Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. | 11801399 | 2002 |
|||
|
C | 0.700 | CausalMutation | CLINVAR | Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. | 11801399 | 2002 |