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Preferred term label:
TTN-Related Myopathy
Synonyms:
TTN Myopathy
Congenital Myopathy Related to TTN
Definition (free text, please give PubMed ID, if applicable, in format PMID:#######)
TTN-…
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GO:0009405 pathogenesis
Has the comment: note that this term should not be used to annotate gene products that are involved in the host response to pathogenesis. It should only be used to annotate tho…
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In case of re-run, it is either customer request, resequencing, bioinformatic workflow update, or just good old re-upload of data.
To begin with, I think it'd be useful to preserve some information…
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The first round shows >8000 (out of 21k) UniProt variants only appear in UniProt evidence. They seem to be in ClinVar but filtered out from EVA evidence due to clinical significance threshold
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Hi,
I found there are some variants that have an `unknown` in ClinVar origin. For example:
https://myvariant.info/v1/variant/chr17%3Ag.7577538C%3ET
In the ClinVar -> rcv ->
```
{
…
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There is something odd in this variant for instance:
https://scout.scilifelab.se/cust003/15001/52b97af467ec8966f6fb497b1aedb79a
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I found a patent sequence (FV537213.1) in cov2.fa which is obviously non-biological (no Cs!) and causes problems for sequence search and comparison algorithms because it is low complexity. Perhaps we …
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Background: Based on discussion with the ClinGen Aminoacidopathy Gene Curation Expert Panel and ClinGen Lumping and Splitting Working Group chair, the following change is requested.
To best capture t…
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The following are some of the clusters that I thought might be interesting/useful (mined from the ~400 CDRs), and I'm trying to see whether folks are interested in adding some of them as new nodes. Th…