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Bi-allelic variants in SNF8 cause a disease spectrum rangin..:
Brugger, Melanie
;
Lauri, Antonella
;
Zhen, Yan
...
The American Journal of Human Genetics. 111 (2024) 3 - p. 594-613 , 2024
Link:
https://doi.org/10.1016/j.ajhg.2024.02.005
RT Journal T1
Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy
UL https://suche.suub.uni-bremen.de/peid=cr-10.1016_j.ajhg.2024.02.005&Exemplar=1&LAN=DE A1 Brugger, Melanie A1 Lauri, Antonella A1 Zhen, Yan A1 Gramegna, Laura L. A1 Zott, Benedikt A1 Sekulić, Nikolina A1 Fasano, Giulia A1 Kopajtich, Robert A1 Cordeddu, Viviana A1 Radio, Francesca Clementina A1 Mancini, Cecilia A1 Pizzi, Simone A1 Paradisi, Graziamaria A1 Zanni, Ginevra A1 Vasco, Gessica A1 Carrozzo, Rosalba A1 Palombo, Flavia A1 Tonon, Caterina A1 Lodi, Raffaele A1 La Morgia, Chiara A1 Arelin, Maria A1 Blechschmidt, Cristiane A1 Finck, Tom A1 Sørensen, Vigdis A1 Kreiser, Kornelia A1 Strobl-Wildemann, Gertrud A1 Daum, Hagit A1 Michaelson-Cohen, Rachel A1 Ziccardi, Lucia A1 Zampino, Giuseppe PB Elsevier BV YR 2024 SN 0002-9297 JF The American Journal of Human Genetics VO 111 IS 3 SP 594 OP 613 LK http://dx.doi.org/https://doi.org/10.1016/j.ajhg.2024.02.005 DO https://doi.org/10.1016/j.ajhg.2024.02.005 SF ELIB - SuUB Bremen
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