Source: CURATED ×
| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
T | 0.700 | CausalMutation | CLINVAR | Spontaneous recurrent mutations and a complex rearrangement in the MECP2 gene in the light of current models of mutagenesis. | 22525432 | 2012 |
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|
T | 0.700 | CausalMutation | CLINVAR | Updating the profile of C-terminal MECP2 deletions in Rett syndrome. | 19914908 | 2010 |
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|
T | 0.700 | CausalMutation | CLINVAR | Rapid detection of deletions in hotspot C-terminal segment region of MECP2 by routine PCR method: report of two classical Rett syndrome patients of Indian origin. | 19371229 | 2009 |
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|
T | 0.700 | CausalMutation | CLINVAR | Mutation analysis of the MECP2 gene in patients of Slavic origin with Rett syndrome: novel mutations and polymorphisms. | 17387578 | 2007 |
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|
T | 0.700 | CausalMutation | CLINVAR | Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update. | 16473305 | 2006 |
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|
T | 0.700 | CausalMutation | CLINVAR | Rett syndrome: analysis of MECP2 and clinical characterization of 31 patients. | 10814718 | 2000 |