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PEREZ PALMA, EDUARDO ESTEBAN
Preferred name
PEREZ PALMA, EDUARDO ESTEBAN
Main Affiliation
Email
eduardoperez@udd.cl
ORCID
Scopus Author ID
55981322300
Now showing
1 - 10 of 11
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PublicationStructural mapping of GABRB3 variants reveals genotype–phenotype correlations( 2022)
Scopus© Citations 12 2 -
PublicationGenomic analysis of AlphaFold2-predicted structures identifies maps of 3D essential sites in 243 neurodevelopmental disorder-associated proteins( 2022)
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PublicationCopy Number Variation Analysis from SNP Genotyping Microarrays in Large Cohorts of Neurological Disorders( 2022)
42 1 -
PublicationMolecular dynamics simulations reveal molecular mechanisms for the gain and loss of function effects of four SCN2A variants( 2024)
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PublicationConserved patterns across ion channels correlate with variant pathogenicity and clinical phenotypes( 2022)
Scopus© Citations 8 10 1 -
PublicationData-driven historical characterization of epilepsy-associated genes( 2023)
Scopus© Citations 9 1 1 -
PublicationGene variant effects across sodium channelopathies predict function and guide precision therapy( 2022)
Scopus© Citations 37 3 1 -
PublicationDelineation of functionally essential protein regions for 242 neurodevelopmental genes( 2022)
Scopus© Citations 3 4 1 -
PublicationSimText: a text mining framework for interactive analysis and visualization of similarities among biomedical entities( 2021)
Scopus© Citations 5 5 1 -
PublicationGRIN Portal: An Interactive Web Application Exploring GRIN Genes and Related Disorders( 2023)
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