Genetics & genetic processes

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ORBi^lu

The ORBi^lu Project

ISSN: 2354-5011

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Genetics & genetic processes [566]


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	Recently added Stefanski Arthur, Pérez-Palma Eduardo, Brünger Tobias,... - SLC6A1 variant pathogenicity, molecular function, and phenotype: a genetic and clinical analysis Brünger Tobias, Ivaniuk Alina, Pérez-Palma Eduardo,... - Pathogenic paralogous variants can be used to apply the ACMG PS1 and PM5 variant interpretation criteria 2023.08.22.23294353 Montanucci Ludovica, Lewis-Smith David, Collins Ryan L.,... - Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.


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