rs1036185928
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs119450940
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs119450940
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Adenylosuccinate lyase deficiency.
|
16839792 |
2006 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.
|
23504561 |
2014 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Diagnosis of adenylosuccinate lyase deficiency by metabolomic profiling in plasma reveals a phenotypic spectrum.
|
27504266 |
2016 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Human adenylosuccinate lyase (ADSL), cloning and characterization of full-length cDNA and its isoform, gene structure and molecular basis for ADSL deficiency in six patients.
|
10888601 |
2000 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
|
10090474 |
1999 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Adenylosuccinate lyase deficiency in the United Kingdom pediatric population: first three cases.
|
20933180 |
2010 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency.
|
18524658 |
2008 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations of ATIC and ADSL affect purinosome assembly in cultured skin fibroblasts from patients with AICA-ribosiduria and ADSL deficiency.
|
22180458 |
2012 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Lethal fetal and early neonatal presentation of adenylosuccinate lyase deficiency: observation of 6 patients in 4 families.
|
17188615 |
2007 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Adenylosuccinate lyase deficiency.
|
25112391 |
2015 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Biochemical and structural analysis of 14 mutant adsl enzyme complexes and correlation to phenotypic heterogeneity of adenylosuccinate lyase deficiency.
|
20127976 |
2010 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiency.
|
20175147 |
2010 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
|
12833398 |
2003 |
rs119450941
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs119450941
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Inherent properties of adenylosuccinate lyase could explain S-Ado/SAICAr ratio due to homozygous R426H and R303C mutations.
|
23714113 |
2013 |
rs119450942
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs119450942
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs119450943
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs119450944
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.
|
23519317 |
2013 |
rs119450944
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs119450944
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
|
|
|
rs119450945
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|