Closed pnrobinson closed 5 years ago
https://beta.monarchinitiative.org/disease/MONDO:0008458
Can we assume that users will immediately grok that this disease is caused by repeat expansions? i.e., NP_002964.3:p.Gln166(>=33)
Maybe it would be better to use an example that has a few more pathogenic variants?
Alternatively, maybe we can provide some explanation?
Not a major issue, close it if we have other things to think about!
Removed from examples.
iimpulse
commented
5 years ago iimpulse
commented
5 years ago
https://beta.monarchinitiative.org/disease/MONDO:0008458
Can we assume that users will immediately grok that this disease is caused by repeat expansions? i.e., NP_002964.3:p.Gln166(>=33)
Maybe it would be better to use an example that has a few more pathogenic variants?
Alternatively, maybe we can provide some explanation?
Not a major issue, close it if we have other things to think about!