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Project Title
Genética en Epilepsia: Caracterización de variantes genéticas raras y comunes en pacientes Chilenos con epilepsias y encefalopatías epilépticas del desarrollo
Partner Organisations
Internal ID
PAI77200124
Principal Investigator
Start Date
2020
Views
14
Last Month
2
2
Acquisition Date
Nov 20, 2024
Nov 20, 2024
Downloads
1
Acquisition Date
Nov 20, 2024
Nov 20, 2024
4 results
Now showing
1 - 4 of 4
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PublicationStructural mapping of GABRB3 variants reveals genotype–phenotype correlations( 2022)
Scopus© Citations 12 2 -
PublicationCopy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders( 2022)
42 1 -
PublicationCNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online( 2023)
Scopus© Citations 4 21 -
PublicationGene variant effects across sodium channelopathies predict function and guide precision therapy( 2022)
Scopus© Citations 37 3 1