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Nature Genetics|June 16, 2009
Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune responseGillian I Rice, Jacquelyn Bond, Aruna Asipu, et al.
Brain : a Journal of Neurology|July 30, 2023
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disordersReza Maroofian, Rauan Kaiyrzhanov, Elisa Cali, et al.
American Journal of Human Genetics|September 12, 2007
Clinical and molecular phenotype of Aicardi-Goutieres syndromeGillian Rice, Teresa Patrick, Rekha Parmar, et al.
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