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Brain : a Journal of Neurology|January 6, 2017
A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesisMustafa Y Ahmed, Aisha Al-Khayat, Fathiya Al-Murshedi, et al.European Journal of Human Genetics : EJHG|June 24, 2020
Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging featuresMarcello Scala, Geok Lin Chua, Cheen Fei Chin, et al.Pageof 7