Variant: rs370343781 

    present in Gene: RTEL1;RTEL1-TNFRSF6B
    present in Chromosome: 20
    Position on Chromosome: 63687765
    Alleles of this Variant: G/T

rs370343781 in RTEL1;RTEL1-TNFRSF6B gene and DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5 PMID 19461895 2009 Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 23329068 2013 Germline mutations of regulator of telomere elongation helicase 1, RTEL1, in Dyskeratosis congenita.

PMID 23591994 2013 Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability.

PMID 24009516 2013 A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.

PMID 23959892 2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

PMID 26808564 2016 TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation.

rs370343781 in RTEL1;RTEL1-TNFRSF6B gene and Dyskeratosis Congenita PMID 23959892 2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

rs370343781 in RTEL1;RTEL1-TNFRSF6B gene and PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3 PMID 23959892 2013 Inherited mutations in the helicase RTEL1 cause telomere dysfunction and Hoyeraal-Hreidarsson syndrome.

PMID 19461895 2009 Diminished telomeric 3' overhangs are associated with telomere dysfunction in Hoyeraal-Hreidarsson syndrome.

PMID 23453664 2013 Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.

PMID 27418648 2016 Genetic features of myelodysplastic syndrome and aplastic anemia in pediatric and young adult patients.

PMID 26808564 2016 TCR αβ and CD19-depleted haploidentical stem cell transplant with reduced intensity conditioning for Hoyeraal-Hreidarsson syndrome with RTEL1 mutation.