Variant: rs1554643473 

    present in Gene: PUF60
    present in Chromosome: 8
    Position on Chromosome: 143818404
    Alleles of this Variant: AT/-

rs1554643473 in PUF60 gene and Dysmorphic features PMID 10606266 1999 PUF60: a novel U2AF65-related splicing activity.

PMID 17579712 2007 Control of pre-mRNA splicing by the general splicing factors PUF60 and U2AF(65).

PMID 24140112 2013 SCRIB and PUF60 are primary drivers of the multisystemic phenotypes of the 8q24.3 copy-number variant.

PMID 10668799 2000 Interaction cloning and characterization of RoBPI, a novel protein binding to human Ro ribonucleoproteins.

PMID 19464398 2009 An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions.

PMID 27804958 2016 Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature.

PMID 19854944 2010 The NCBI BioSystems database.

PMID 19348700 2009 The Human Gene Mutation Database: 2008 update.

PMID 24253303 2014 Activities at the Universal Protein Resource (UniProt).

PMID 28327570 2017 PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features.

PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 28990276 2018 Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.