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ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy
- Mattison, KA (author)
- Tossing, G (author)
- Mulroe, F (author)
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- Simmons, C (author)
- Butler, KM (author)
- Schreiber, A (author)
- Alsadah, A (author)
- Neilson, DE (author)
- Naess, K (author)
- Sorlin, A (author)
- McCann, E (author)
- Burghel, GJ (author)
- Menendez, B (author)
- Hoganson, GE (author)
- Botto, LD (author)
- Filloux, FM (author)
- Aledo-Serrano, Á (author)
- Gil-Nagel, A (author)
- Tatton-Brown, K (author)
- Verbeek, NE (author)
- van Hirtum-Das, M (author)
- Breckpot, J (author)
- Hammer, TB (author)
- Møller, RS (author)
- Whitney, A (author)
- Douglas, AGL (author)
- Kharbanda, M (author)
- Brunetti-Pierri, N (author)
- Morleo, M (author)
- Nigro, V (author)
- May, HJ (author)
- Tao, JX (author)
- Argili, E (author)
- Sherr, EH (author)
- Dobyns, WB (author)
- Consortium, GER (author)
- Baines, RA (author)
- Warwicker, J (author)
- Parker, JA (author)
- Banka, S (author)
- Campeau, PM (author)
- Escayg, A (author)
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- (creator_code:org_t)
- 2022
- 2022
- English.
- In: Brain : a journal of neurology. - 1460-2156.
- Journal article (peer-reviewed)
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- Brain : a journal of neurology (Search for host publication in LIBRIS)
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- Mattison, KA
- Tossing, G
- Mulroe, F
- Simmons, C
- Butler, KM
- Schreiber, A
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- Alsadah, A
- Neilson, DE
- Naess, K
- Wedell, A
- Wredenberg, A
- Sorlin, A
- McCann, E
- Burghel, GJ
- Menendez, B
- Hoganson, GE
- Botto, LD
- Filloux, FM
- Aledo-Serrano, Á
- Gil-Nagel, A
- Tatton-Brown, K
- Verbeek, NE
- van Hirtum-Das, ...
- Breckpot, J
- Hammer, TB
- Møller, RS
- Whitney, A
- Douglas, AGL
- Kharbanda, M
- Brunetti-Pierri, ...
- Morleo, M
- Nigro, V
- May, HJ
- Tao, JX
- Argili, E
- Sherr, EH
- Dobyns, WB
- Consortium, GER
- Baines, RA
- Warwicker, J
- Parker, JA
- Banka, S
- Campeau, PM
- Escayg, A
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- Brain : a journa ...
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- Karolinska Institutet
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