rs104886457
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Analysis of FANCC gene mutations (IVS4+4A>T, del322G, and R548X)in patients with Fanconi anemia in Pakistan.
|
28425259 |
2017 |
rs121917783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders.
|
27577878 |
2017 |
rs121917783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Treatment Outcomes and Tumor Loss of Heterozygosity in Germline DNA Repair-deficient Prostate Cancer.
|
28259476 |
2017 |
rs121917783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.
|
28125078 |
2017 |
rs104886456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.
|
26778106 |
2016 |
rs104886456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs104886457
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs121917783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
rs104886456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
rs104886456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
|
23613520 |
2013 |
rs104886456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.
|
22701786 |
2012 |
rs121917783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.
|
23028338 |
2012 |
rs121917783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Diagnosis of Fanconi Anemia: Mutation Analysis by Multiplex Ligation-Dependent Probe Amplification and PCR-Based Sanger Sequencing.
|
22778927 |
2012 |
rs121917783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
|
21659346 |
2011 |
rs121917783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic inactivation of the Fanconi anemia gene FANCC identified in the hepatocellular carcinoma cell line HuH-7 confers sensitivity towards DNA-interstrand crosslinking agents.
|
20509860 |
2010 |
rs121917783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genetic subtyping of Fanconi anemia by comprehensive mutation screening.
|
17924555 |
2008 |
rs104886456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Fanconi anemia in Ashkenazi Jews.
|
15516848 |
2004 |
rs104886456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
The IVS4 + 4 A to T mutation of the fanconi anemia gene FANCC is not associated with a severe phenotype in Japanese patients.
|
10666230 |
2000 |
rs104886456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Clinical variability of Fanconi anemia (type C) results from expression of an amino terminal truncated Fanconi anemia complementation group C polypeptide with partial activity.
|
8639804 |
1996 |
rs104886457
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Sequence variations in the Fanconi anaemia gene, FAC: pathogenicity of 1806insA and R548X and recognition of D195V as a polymorphic variant.
|
8882868 |
1996 |
rs104886457
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel mutations and polymorphisms in the Fanconi anemia group C gene.
|
8844212 |
1996 |
rs104886456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation analysis of the Fanconi anemia gene FACC.
|
8128956 |
1994 |
rs104886456
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.
|
8348157 |
1993 |
rs104886457
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
FACC gene mutations and early prenatal diagnosis of Fanconi's anaemia.
|
8103176 |
1993 |
rs121917783
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
A nonsense mutation and exon skipping in the Fanconi anaemia group C gene.
|
7689011 |
1993 |