rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
0.800
GeneticVariation
UNIPROT
Structural and biochemical characterization of human adenylosuccinate lyase (ADSL) and the R303C ADSL deficiency-associated mutation.
22812634
2012
rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
0.800
GeneticVariation
UNIPROT
Screening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patients.
12368987
2002
rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
0.800
GeneticVariation
UNIPROT
Mutation analysis in adenylosuccinate lyase deficiency: eight novel mutations in the re-evaluated full ADSL coding sequence.
10090474
1999
rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
0.800
GeneticVariation
UNIPROT
Intrafamilial variability in the phenotypic expression of adenylosuccinate lyase deficiency: a report on three patients.
12833398
2003
rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
0.800
GeneticVariation
UNIPROT
Identification of new mutations in the adenylosuccinate lyase gene associated with impaired enzyme activity in lymphocytes and red blood cells.
9545543
1998
rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
0.800
GeneticVariation
UNIPROT
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
rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
0.800
GeneticVariation
UNIPROT
Clinical, biochemical and molecular genetic correlations in adenylosuccinate lyase deficiency.
10958654
2000
rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
0.800
GeneticVariation
UNIPROT
Biochemical and biophysical analysis of five disease-associated human adenylosuccinate lyase mutants.
19405474
2009
rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
0.800
GeneticVariation
UNIPROT
Adenylosuccinase deficiency presenting with epilepsy in early infancy.
9266401
1997
rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
0.800
GeneticVariation
UNIPROT
A mutation in adenylosuccinate lyase associated with mental retardation and autistic features.
1302001
1992
rs202064195
×
Entrez Id:
158
Gene Symbol:
ADSL
ADSL
Adenylosuccinate lyase deficiency (disorder)
T
0.800
GeneticVariation
CLINVAR