CLP1

Publications

Karaca E et al. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014;157(3):636-50.  PMID: 24766809

Schaffer A et al. CLP1 founder mutation links tRNA splicing and maturation to cerebellar development and neurodegeneration. Cell. 2014;157(3):651-63.  PMID: 24766810

Wafik M et al. 2 new cases of pontocerebellar hypoplasia type 10 identified by whole exome sequencing in a Turkish family. Eur J Med Genet. 2018(5):273-279.  PMID: 29307788