rs121964962
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Variable hyperhomocysteinaemia phenotype in heterozygotes for the Gly307Ser mutation in cystathionine beta-synthase.
|
8744616 |
1996 |
rs121964962
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.
|
9889017 |
1998 |
rs121964962
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
|
22267502 |
2012 |
rs121964962
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
High frequency (71%) of cystathionine beta-synthase mutation G307S in Irish homocystinuria patients.
|
7581402 |
1995 |
rs121964962
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Molecular basis of cystathionine beta-synthase deficiency in pyridoxine responsive and nonresponsive homocystinuria.
|
7506602 |
1993 |
rs121964962
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Metabolic profiling of total homocysteine and related compounds in hyperhomocysteinemia: utility and limitations in diagnosing the cause of puzzling thrombophilia in a family.
|
23733603 |
2013 |
rs121964962
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
|
20506325 |
2010 |
rs121964964
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Conformational properties of nine purified cystathionine β-synthase mutants.
|
22612060 |
2012 |
rs121964964
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Surrogate genetics and metabolic profiling for characterization of human disease alleles.
|
22267502 |
2012 |
rs121964964
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cystathionine beta-synthase mutants exhibit changes in protein unfolding: conformational analysis of misfolded variants in crude cell extracts.
|
22069143 |
2012 |
rs121964964
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Restoring assembly and activity of cystathionine β-synthase mutants by ligands and chemical chaperones.
|
20490928 |
2011 |
rs121964964
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The molecular basis of homocystinuria due to cystathionine beta-synthase deficiency in Italian families, and report of four novel mutations.
|
7762555 |
1995 |
rs121964964
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.
|
20506325 |
2010 |
rs121964972
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification and functional analysis of cystathionine beta-synthase gene mutations in patients with homocystinuria.
|
16205833 |
2005 |
rs121964972
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A forgotten lethal psychosis: a case report.
|
23812867 |
2014 |
rs121964972
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The molecular basis of cystathionine beta-synthase deficiency in Australian patients: genotype-phenotype correlations and response to treatment.
|
12124992 |
2002 |
rs121964972
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The p.T191M mutation of the CBS gene is highly prevalent among homocystinuric patients from Spain, Portugal and South America.
|
16479318 |
2006 |
rs121964972
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification and functional analyses of CBS alleles in Spanish and Argentinian homocystinuric patients.
|
21520339 |
2011 |
rs121964972
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cystathionine beta-synthase deficiency in Georgia (USA): correlation of clinical and biochemical phenotype with genotype.
|
14635102 |
2003 |
rs121964972
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Characterisation of five missense mutations in the cystathionine beta-synthase gene from three patients with B6-nonresponsive homocystinuria.
|
9156316 |
1997 |
rs121964972
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular and clinical characterisation of homocystinuria in two Austrian families with cystathionine beta-synthase deficiency.
|
11774777 |
2001 |
rs121964973
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cystathionine beta-synthase mutations in homocystinuria.
|
10338090 |
1999 |
rs121964973
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Enzymatic diagnosis of homocystinuria by determination of cystathionine-ß-synthase activity in plasma using LC-MS/MS.
|
25218699 |
2015 |
rs121964973
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Molecular analysis of homocystinuria in Brazilian patients.
|
15993874 |
2005 |
rs121964973
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of CBS mutations in 16 homocystinuric patients from the Iberian Peninsula: high prevalence of T191M and absence of I278T or G307S.
|
12815602 |
2003 |