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Da Silva A 1

Showing records 1 to 1 | Display all abstracts from Da Silva A

128573 Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy
Da Silva A; Tene Tadoum SB; Muffels IJJ; Budhraja R; Sturiale L; Messina A; Giladi M; Taherzadeh M; Fazeli M; Bonneil É; Khan S; Te Vruchte D; Yamanaka Y; Di Cristo G; Hamdan FF; Platt FM; Tomatsu S; Haitin Y; Kozicz T; Thibault P; Garozzo D; Pandey A; Morava E; Rossignol E; Pshezhetsky AV
bioRxiv : the preprint server for biology 2025; 0:

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