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Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.

Bibliographic reference Lardelli, Rea M ; Schaffer, Ashleigh E ; Eggens, Veerle R C ; Zaki, Maha S ; Grainger, Stephanie ; et. al. Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing.. In: Nature Genetics, Vol. 49, no.3, p. 457-464 (2017)
Permanent URL http://hdl.handle.net/2078.1/185588
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