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pro vyhledávání: '"Masha Bandouil"'
Autor:
Hannah C Happ, Patricia N Schneider, Jung Hwa Hong, Eleanor Goes, Masha Bandouil, Carina G. Biar, Aishwarya Ramamurthy, Fairlie Reese, Krysta Engel, Sarah Weckhuysen, Ingrid E Scheffer, Heather C Mefford, Jeffrey D Calhoun, Gemma L Carvill
Publikováno v:
bioRxiv
Pathogenic loss-of-functionSCN1Avariants cause a spectrum of seizure disorders. We previously identified variants in individuals withSCN1A-related epilepsy that fall in or near a poison exon (PE) inSCN1Aintron 20 (20N). We hypothesized these variants
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fb40aa0bd11091b588786ae54a7f997
https://doi.org/10.1101/2023.05.04.538282
https://doi.org/10.1101/2023.05.04.538282
