Variant: rs387907186 

    present in Gene: SF3B4
    present in Chromosome: 1
    Position on Chromosome: 149923670
    Alleles of this Variant: G/-;GG

rs387907186 in SF3B4 gene and Dysmorphic features PMID 24715698 2014 Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?

PMID 24003905 2014 Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

PMID 23568615 2013 Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

PMID 27642715 2016 Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 18000904 2007 Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.

rs387907186 in SF3B4 gene and Multiple congenital anomalies PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.

PMID 24715698 2014 Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome?

PMID 24003905 2014 Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause.

PMID 23568615 2013 Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome.

PMID 27642715 2016 Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

PMID 18000904 2007 Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings.

rs387907186 in SF3B4 gene and Nager syndrome PMID 22541558 2012 Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome.