PUF60

Publications

Dauber A et al. SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant. Am J Hum Genet. 2013;93(5):798-811. Note: Erratum: Am J Hum Genet. 2013;93: 994 only. PMID: 24140112.

Kew C et al. Evolutionarily conserved regulation of immunity by the splicing factor RNP-6/PUF60. Elife. 2020;9:e57591. doi: 10.7554/eLife.57591. PMID: 32538777.

Verheij JBGM et al. An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions. Eur J Med Genet. 2009;52(5):353-357. PMID: 19464398.