rs574034197
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs574034197
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
|
22778927 |
2012 |
rs574034197
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Diagnosis of Fanconi anemia in patients with bone marrow failure.
|
19278965 |
2009 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent.
|
19888064 |
2009 |
rs574034197
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Validation of Fanconi anemia complementation Group A assignment using molecular analysis.
|
19367192 |
2009 |
rs574034197
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
|
17924555 |
2008 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Carrier screening in individuals of Ashkenazi Jewish descent.
|
18197057 |
2008 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
|
17924555 |
2008 |
rs574034197
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Spectrum of sequence variations in the FANCA gene: an International Fanconi Anemia Registry (IFAR) study.
|
15643609 |
2005 |
rs574034197
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Heterogeneous activation of the Fanconi anemia pathway by patient-derived FANCA mutants.
|
12444097 |
2002 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fanconi anaemia group A (FANCA) mutations in Israeli non-Ashkenazi Jewish patients.
|
11091222 |
2000 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.
|
10807541 |
2000 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
High frequency of large intragenic deletions in the Fanconi anemia group A gene.
|
10521298 |
1999 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Heterogeneous spectrum of mutations in the Fanconi anaemia group A gene.
|
10094191 |
1999 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Four novel mutations of the Fanconi anemia group A gene (FAA) in Japanese patients.
|
9929978 |
1999 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A patient-derived mutant form of the Fanconi anemia protein, FANCA, is defective in nuclear accumulation.
|
10210316 |
1999 |
rs574034197
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Sequence variation in the Fanconi anemia gene FAA.
|
9371798 |
1997 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Sequence variation in the Fanconi anemia gene FAA.
|
9371798 |
1997 |
rs574034197
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of the Fanconi anemia group A gene (FAA) in Italian patients.
|
9399890 |
1997 |