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|Restrictions to use||None|
|Database management system||PostgreSQL|
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- person_outline Tychele Turner
Publication for denovo-db
Prospective investigation of FOXP1 syndrome
[…] We searched the published literature for mutations in FOXP1 using PubMed, the Human Gene Mutation Database (HGMD) Professional (Biobase), and denovo-db . We retrieved and examined the genetic information from all studies indicated in Additional file : Table S1. We also included pathogenic mutations reported in ClinVar (NCBI, http://www.nc […]
Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains
[…] ugust 2016]) (n = 6,503) or the Exome Aggregation Consortium (ExAC) database v.0.3 without neuropsychiatric disorders (n = 45,376)) (). None of these mutations were observed in unaffected controls in denovo-db v.0.9. Seven sites had more than two recurrent mutations (e.g., PACS1 with six mutations at residue 203) and some genes had more than one recurrently mutated amino acid residue (e.g., SCN2A) […]
The 24th annual Nucleic Acids Research database issue: a look back and upcoming changes
[…] comprehensive resources linking pathogenic gene variants to a variety of other data.The third database in this issue recognized by the NAR reviewers and editors with the ‘Breakthrough’ designation is denovo-db, a database of mutations that have been found in human subjects but which were missing in both of their parents (). The database lists ∼32 000 sites in the genome with data obtained from >16 […]
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