Publications
Export 1 results:
Author Title [ Year![(Asc)](http://mendelian.org/sites/all/modules/biblio/misc/arrow-asc.png)
Filters: Author is Lardelli, Rea M and Keyword is Female [Clear All Filters]
Biallelic mutations in the 3' exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing. Nat Genet 49, 457-464 (2017).