Associated Papers
ADAT3 variants disrupt the activity of the ADAT tRNA deaminase complex and impair neuronal migration.
Del-Pozo-Rodriguez J et al.
Brain : a Journal of Neurology, 2025
40120092 (PubMed )
Supplement: awaf109_supplementary_data.zip › brain-2024-02790-File011.xlsx › Feuil1
Clinical and genetic characteristics of a large international cohort of individuals with rare NR5A1/SF-1 variants of sex development.
Kouri C et al.
Ebiomedicine, 2024
38168586 (PubMed )
Supplement: mmc1.pdf
Novel insights into the biotin carboxylase domain reactions of pyruvate carboxylase from Rhizobium etli.
Zeczycki TN et al.
Biochemistry, 2011
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