addressed questions

dashnowlab · Jun 14, 2024 · 79e0737 · 79e0737
1 parent dd5cad2
commit 79e0737
Showing 1 changed file with 5 additions and 5 deletions.
diff --git a/data/STRchive-database.json b/data/STRchive-database.json
@@ -211,16 +211,16 @@
  "ref_copies":34.0,
  "repeatunitlen":3,
  "age_onset":"Typical: 20-49 (OMIM), Range: 8(PMID: 15851746)-78 (PMID: 19227892)",
- "age_onset_min":15,
- "age_onset_max":75,
+ "age_onset_min":8,
+ "age_onset_max":78,
  "typ_age_onset_min":20.0,
  "typ_age_onset_max":49.0,
  "novel":"ref",
  "Mechanism":"Polyglutamine",
  "Mechanism_detail":"Polyglutamine",
  "Mechanism_source":"(doi.org\/10.1038\/nrg.2017.115) (doi.org\/10.1007\/s11604-022-01343-5)",
  "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.",
+ "notes":"Possibility that contractions may play a role in disease (PMID: 10398229). May be subclinical in females (PMID: 34922802). Interruptions are not found and thus appear not to play a role in disease (PMID: 24041967). Can be clinically heterogeneous even within the same family (PMID: 20184516); may present with clinical heterogeneity.",
  "details":"First triplet disease to be discovered (doi:10.1001/archneur.61.8.1324)",
  "width":102.0,
  "OMIM":"313200",
@@ -279,7 +279,7 @@
  "Mechanism_source":"(doi.org\/10.1038\/nature05977) (doi.org\/10.1007\/s11604-022-01343-5)",
  "source":"GeneReviews NBK535148, OMIM",
  "notes":"Exon 2 aa 110-115",
- "details":"ARX expansions result in a range of phenotypes described in 10.1002/mgg3.133 and 10.1002/humu.21288",
+ "details":"ARX expansions result in a range of phenotypes such as Partington syndrome (OMIM 309510), Early Infantile Epileptic Encephalopathy (OMIM 308350), Agenesis of Corpus Callosum with Abnormal Genitalia (OMIM 300004), and X-Linked Lissencephaly with Ambiguous Genitalia (OMIM 300215) as described in 10.1002/mgg3.133 and 10.1002/humu.21288",
  "width":43.0,
  "OMIM":"308350; 300419; 300215",
  "Prevalence":null,
@@ -337,7 +337,7 @@
  "Mechanism_source":"(OMIM) (doi.org\/10.1007\/s11604-022-01343-5)",
  "source":"GeneReviews NBK535148, OMIM",
  "notes":"Novel, Exon 2 aa 144-155",
- "details":"ARX expansions result in a range of phenotypes described in 10.1002/mgg3.133 and 10.1002/humu.21288",
+ "details":"ARX expansions result in a range of phenotypes such as Partington syndrome (OMIM 309510), Early Infantile Epileptic Encephalopathy (OMIM 308350), Agenesis of Corpus Callosum with Abnormal Genitalia (OMIM 300004), and X-Linked Lissencephaly with Ambiguous Genitalia (OMIM 300215) as described in 10.1002/mgg3.133 and 10.1002/humu.21288",
  "width":35.0,
  "OMIM":"309510",
  "Prevalence":null,