|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
|
26025130 |
2015 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
CausalMutation
|
CLINVAR |
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
|
25047097 |
2015 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
|
25620558 |
2015 |
|
Idiopathic Pulmonary Fibrosis
|
|
0.700 |
CausalMutation
|
CLINVAR |
Rare variants in RTEL1 are associated with familial interstitial pneumonia.
|
25607374 |
2015 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
GeneticVariation
|
CLINVAR |
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
|
25620558 |
2015 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
|
25047097 |
2015 |
|
Dyskeratosis Congenita
|
|
0.700 |
CausalMutation
|
CLINVAR |
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
|
26025130 |
2015 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Carrier screening of RTEL1 mutations in the Ashkenazi Jewish population.
|
25047097 |
2015 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
|
26025130 |
2015 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
CausalMutation
|
CLINVAR |
A homozygous mutation of RTEL1 in a child presenting with an apparently isolated natural killer cell deficiency.
|
26025130 |
2015 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
CausalMutation
|
CLINVAR |
TRF2 recruits RTEL1 to telomeres in S phase to promote t-loop unwinding.
|
25620558 |
2015 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
CausalMutation
|
CLINVAR |
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.
|
25099625 |
2014 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.
|
25099625 |
2014 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Improved sensitivity to detect recombination using qPCR for Dyskeratosis Congenita PGD.
|
25099625 |
2014 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
|
24009516 |
2013 |
|
Dyskeratosis Congenita
|
|
0.700 |
CausalMutation
|
CLINVAR |
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
|
24009516 |
2013 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
CausalMutation
|
CLINVAR |
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
|
23453664 |
2013 |
|
Dyskeratosis Congenita
|
|
0.700 |
CausalMutation
|
CLINVAR |
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
|
23453664 |
2013 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
|
23453664 |
2013 |
|
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Constitutional mutations in RTEL1 cause severe dyskeratosis congenita.
|
23453664 |
2013 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
CausalMutation
|
CLINVAR |
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
|
24009516 |
2013 |
|
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 5
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A recessive founder mutation in regulator of telomere elongation helicase 1, RTEL1, underlies severe immunodeficiency and features of Hoyeraal Hreidarsson syndrome.
|
24009516 |
2013 |