Variant: rs1555377234 

    present in Gene: IRF2BPL
    present in Chromosome: 14
    Position on Chromosome: 77025641
    Alleles of this Variant: A/-

rs1555377234 in IRF2BPL gene and Dysmorphic features PMID 17627301 2007 Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 21444724 2011 A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.

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

PMID 11095982 2000 Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.

rs1555377234 in IRF2BPL gene and Multiple congenital anomalies PMID 28135719 2017 Prevalence and architecture of de novo mutations in developmental disorders.

PMID 11095982 2000 Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

PMID 17627301 2007 Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.

PMID 21444724 2011 A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.

rs1555377234 in IRF2BPL gene and Muscle hypotonia PMID 17627301 2007 Enhanced at puberty 1 (EAP1) is a new transcriptional regulator of the female neuroendocrine reproductive axis.

PMID 11095982 2000 Characterization of C14orf4, a novel intronless human gene containing a polyglutamine repeat, mapped to the ARVD1 critical region.

PMID 25363768 2014 The contribution of de novo coding mutations to autism spectrum disorder.

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

PMID 21444724 2011 A novel transcription complex that selectively modulates apoptosis of breast cancer cells through regulation of FASTKD2.