Variant: rs121912295 

    present in Gene: DKC1;SNORA56
    present in Chromosome: X
    Position on Chromosome: 154774651
    Alleles of this Variant: G/A

rs121912295 in DKC1;SNORA56 gene and X-Linked Dyskeratosis Congenita PMID 25219674 2014 Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.

PMID 9590285 1998 X-linked dyskeratosis congenita is caused by mutations in a highly conserved gene with putative nucleolar functions.

PMID 17417794 2008 X-linked dyskeratosis congenita in Malaysia.

PMID 15304085 2004 Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.

PMID 10364516 1999 X-linked dyskeratosis congenita is predominantly caused by missense mutations in the DKC1 gene.

PMID 19879169 2010 Novel mutations of the DKC1 gene in individuals affected with dyskeratosis congenita.

PMID 18802941 2009 Identification of a novel mutation in DKC1 in dyskeratosis congenita.

PMID 21602826 2011 Telomere shortening and loss of self-renewal in dyskeratosis congenita induced pluripotent stem cells.

PMID 19734544 2009 Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.

PMID 21610750 2011 Clinical utility gene card for: dyskeratosis congenita.