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Linked to https://www.ebi.ac.uk/panda/jira/browse/EVA-2324. Reported by Kostas Tsirigos on 2021-02-03 via email:
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Dear EVA team,
We are very happy to share with you our new JSON schema whi…
tskir updated
3 years ago
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The site-specific estimators define threshold for labeling the variant as benign/pathogenic. Use thresholds to perform the classification and indicate the results in the output files
ielis updated
3 years ago
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**Preferred term label:**
SELENON-related myopathy
**Synonyms**
SEPN1-related myopathy
**Definition (free text, please give PubMed ID, if applicable, in format PMID:#######)**
Myopathy caused…
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**Preferred gene-related syndrome label**
TPM2-Related Myopathy
**Synonyms**
TPM2 myopathy
congenital myopathy related to TPM2
autosomal dominant TPM2-related myopathy
**Definition (free tex…
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**Preferred term label:**
P5CS Deficiency
**Synonyms:**
Δ1-Pyrroline-5-carboxylate synthetase deficiency
**Definition (free text, please give PubMed ID, if applicable, in format PMID:#######…
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Preferred gene-related syndrome label: DKC1-related disorder
Synonyms: none
Definition (free text, please give PubMed ID, if applicable, in format PMID:#######): In literature, the DKC1 gene has…
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**Preferred term label:**
TPM3-Related Myopathy
**Synonyms:**
Autosomal Dominant TPM3-Related Myopathy
TPM3 Myopathy
Congenital Myopathy Related to TPM3
**Definition (free text, please giv…
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**Preferred gene-related syndrome label**
RYR1-Related Myopathy
**Synonyms**
**Definition (free text, please give PubMed ID, if applicable, in format PMID:#######)**
RYR1-Related Myopathy is a…