rs760417941
|
|
Cystathionine beta-Synthase Deficiency Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.
|
26464485 |
2015 |
rs760417941
|
|
Cystathionine beta-Synthase Deficiency Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
|
25218699 |
2015 |
rs760417941
|
|
Cystathionine beta-Synthase Deficiency Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
|
23974653 |
2014 |
rs760417941
|
|
Cystathionine beta-Synthase Deficiency Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
[Pulmonary embolism in young adults. Think of homocysteine].
|
24613005 |
2014 |
rs760417941
|
|
Cystathionine beta-Synthase Deficiency Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Vascular and connective tissue features in 5 Italian patients with homocystinuria.
|
18280597 |
2009 |
rs760417941
|
|
Cystathionine beta-Synthase Deficiency Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
|
16429402 |
2006 |
rs760417941
|
|
Cystathionine beta-Synthase Deficiency Disease
|
T |
0.800 |
GeneticVariation
|
CLINVAR |
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.
|
9870207 |
1998 |
rs760417941
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
|
25218699 |
2015 |
rs760417941
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.
|
23974653 |
2014 |
rs760417941
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
|
22267502 |
2012 |
rs760417941
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Functional assays testing pathogenicity of 14 cystathionine-beta synthase mutations.
|
16429402 |
2006 |
rs760417941
|
|
HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.
|
9870207 |
1998 |