Associated Papers
Variations associated with neurodevelopmental disorders affect ARF1 function and cortical development.
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Journal of Biochemistry, 2024
Axon development is regulated at genetic and proteomic interfaces between the integrin adhesome and the RPM-1 ubiquitin ligase signaling hub.
Amezquita J et al.
Biorxiv : the Preprint Server for Biology, 2023
38014183 (PubMed )
Supplement: media-8.xlsx › Human_Genetic_Variants
ARF1-related disorder: phenotypic and molecular spectrum.
de Sainte Agathe JM et al.
Journal of Medical Genetics, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
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American Journal of Human Genetics, 2022
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Supplement: mmc2.xlsx › mmc2
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