rs113993991
|
|
|
0.710 |
GeneticVariation |
BEFREE |
We further show that the common SDS-related K62X truncation is non-functional.
|
15701631 |
2005 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Association of isochromosome (7)(q10) in Shwachman-Diamond syndrome with the severity of cytopenia.
|
29375851 |
2018 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Shwachman-Diamond syndrome: diarrhea, no longer required?
|
22935661 |
2013 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
These data are consistent with absence of homozygosity for the common K62X truncation mutation in individuals with SDS, indicating that the SDS disease phenotype is a consequence of expression of hypomorphic SBDS alleles and that complete loss of SBDS function is likely to be lethal.
|
15701631 |
2005 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.
|
14749921 |
2004 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.
|
25844324 |
2015 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.
|
21695142 |
2011 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.
|
24388329 |
2014 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Shwachman-Diamond syndrome (SDS) in a preterm neonate.
|
26081292 |
2015 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Spectrum and prevalence of genetic predisposition in medulloblastoma: a retrospective genetic study and prospective validation in a clinical trial cohort.
|
29753700 |
2018 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
The Shwachman-Diamond SBDS protein localizes to the nucleolus.
|
15860664 |
2005 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Two cases of Shwachman-Diamond syndrome in adolescents confirmed by genetic analysis.
|
25729736 |
2015 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Mutations in SBDS are associated with Shwachman-Diamond syndrome.
|
12496757 |
2003 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Young-age-onset pancreatoduodenal carcinoma in Shwachman-Diamond syndrome.
|
24629175 |
2014 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Acquired copy number neutral loss of heterozygosity of chromosome 7 associated with clonal haematopoiesis in a patient with Shwachman-Diamond syndrome.
|
22934832 |
2012 |
rs113993991
|
|
AG |
0.710 |
CausalMutation |
CLINVAR |
Congenital aplastic anemia caused by mutations in the SBDS gene: a rare presentation of Shwachman-Diamond syndrome.
|
15342903 |
2004 |