Variant: rs121912288 

    present in Gene: SNORA56;DKC1
    present in Chromosome: X
    Position on Chromosome: 154773152
    Alleles of this Variant: C/T

rs121912288 in SNORA56;DKC1 gene and Dyskeratosis Congenita PMID 25992652 2015 Here we describe the production of iPS cells from DC patients with DKC1 mutations Q31E, A353V and ΔL37.

PMID 22058290 2012 The accumulation and not the specific activity of telomerase ribonucleoprotein determines telomere maintenance deficiency in X-linked dyskeratosis congenita.

PMID 19835419 2009 Single-molecule analysis of the human telomerase RNA.dyskerin interaction and the effect of dyskeratosis congenita mutations.

PMID 19391112 2009 Variable expression of Dkc1 mutations in mice.

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

rs121912288 in SNORA56;DKC1 gene and X-Linked Dyskeratosis Congenita PMID 15304085 2004 Identification of a novel mutation and a de novo mutation in DKC1 in two Chinese pedigrees with Dyskeratosis congenita.

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

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

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

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

PMID 24914498 2014 Hoyeraal-Hreidarsson syndrome with a DKC1 mutation identified by whole-exome sequencing.

PMID 17417794 2008 X-linked dyskeratosis congenita in Malaysia.

PMID 25219674 2014 Transcriptome-wide mapping reveals widespread dynamic-regulated pseudouridylation of ncRNA and mRNA.

PMID 10583221 1999 Unexplained aplastic anaemia, immunodeficiency, and cerebellar hypoplasia (Hoyeraal-Hreidarsson syndrome) due to mutations in the dyskeratosis congenita gene, DKC1.

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

PMID 12437656 2002 A novel DKC1 mutation, severe combined immunodeficiency (T+B-NK- SCID) and bone marrow transplantation in an infant with Hoyeraal-Hreidarsson syndrome.

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

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