Highlighting the different facets of SMC1A truncating variants: Two patients with novel SMC1A pathogenic variants.

Epileptic Disord

Research Team in Genomics and Molecular Epidemiology of Genetic Diseases, Genopath Centre, Faculty of Medicine and Pharmacy of Rabat, University Mohammed V of Rabat, Rabat, Morocco.

Published: November 2024

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http://dx.doi.org/10.1002/epd2.20306DOI Listing

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