updating AR and ARX #23
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hdashnow
requested changes
Jun 13, 2024
data/STRchive-database.json
Outdated
| @@ -210,7 +210,7 @@ | |||
| "pathogenic_max":68.0, | |||
| "ref_copies":34.0, | |||
| "repeatunitlen":3, | |||
| "age_onset":"Typical: 20-49 (OMIM), Range: 15-75 (https:\/\/doi.org\/10.1038\/sj.ejhg.5200656) ", | |||
| "age_onset":"Typical: 20-49 (OMIM), Range: 8(PMID: 15851746)-78 (PMID: 19227892)", | |||
| "age_onset_min":15, | |||
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Shouldn't min and max age of onset change here, too?
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indeed, missed it in my haste
data/STRchive-database.json
Outdated
| "notes":"Can have 'CAA' as an interruption (PMID: 35245110)", | ||
| "details":null, | ||
| "source":"Hannan 2018, Mirkin 2007, GeneReviews NBK535148, s40478-021-01201-x, doi.org/10.1016/j.neurol.2017.03.019, doi.org/10.1016/j.pneurobio.2012.05.007, doi.org/10.1111/odi.12121, DOI: 10.1007/s00415-018-8968-7, DOI: 10.1007/s12031-015-0684-5", | ||
| "notes":"Possibility that contractions may play a role in disease (PMID: 10398229). May be subclinical in females (PMID: 34922802). Interruptions appear not to play a role (PMID: 24041967). Can be clinically heterogeneous even within the same family (PMID: 20184516); may present with clinical heterogeneity.", |
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What does "Interruptions appear not to play a role" mean? That they don't exist, or that they do occur, but don't change the pathogenicity of the allele?
hdashnow
approved these changes
Jun 14, 2024
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thank you for your patience!