Associated Papers
Biallelic TSEN2 variants causing pontocerebellar hypoplasia type 2.
Hayashi Y et al.
Journal of Human Genetics, 2025
Recent insights into the structure, function, and regulation of the eukaryotic transfer RNA splicing endonuclease complex.
Hayne CK et al.
Wiley Interdisciplinary Reviews. Rna, 2022
Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.
Bierhals T et al.
European Journal of Medical Genetics, 2013
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