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A homozygous missense variant in the MLC1 gene underlies me..:
Ain ul Batool, Syeda
;
Almatrafi, Ahmad
;
Fadhli, Fatima
...
American Journal of Medical Genetics Part A. 188 (2021) 4 - p. 1075-1082 , 2021
Link:
https://doi.org/10.1002/ajmg.a.62614
RT Journal T1 <Title>A homozygous missense variant in the MLC1 gene underlies megalencephalic leukoencephalopathy with subcortical cysts in large kindred: Heterozygous carriers show seizure and mild motor function deterioration</Title> UL https://suche.suub.uni-bremen.de/peid=cr-10.1002_ajmg.a.62614&Exemplar=1&LAN=DE A1 Ain ul Batool, Syeda A1 Almatrafi, Ahmad A1 Fadhli, Fatima A1 Alluqmani, Majed A1 Sadia A1 Ali, Ghazanfar A1 Basit, Sulman PB Wiley YR 2021 SN 1552-4825 SN 1552-4833 JF American Journal of Medical Genetics Part A VO 188 IS 4 SP 1075 OP 1082 LK http://dx.doi.org/https://doi.org/10.1002/ajmg.a.62614 DO https://doi.org/10.1002/ajmg.a.62614 SF ELIB - SuUB Bremen
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