|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
The risk for developing cancer in Israeli ATM, BLM, and FANCC heterozygous mutation carriers.
|
26778106 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
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 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.
|
25525159 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.
|
23613520 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
A Dutch Fanconi Anemia FANCC Founder Mutation in Canadian Manitoba Mennonites.
|
22701786 |
2012 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fanconi anemia and its diagnosis.
|
19622403 |
2009 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.700 |
CausalMutation
|
CLINVAR |
Should chromosome breakage studies be performed in patients with VACTERL association?
|
16015582 |
2005 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Fanconi anemia in Ashkenazi Jews.
|
15516848 |
2004 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.700 |
CausalMutation
|
CLINVAR |
Intermediate DNA repair activity associated with the 322delG allele of the fanconi anemia complementation group C gene.
|
15364573 |
2004 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.700 |
CausalMutation
|
CLINVAR |
Preimplantation diagnosis for Fanconi anemia combined with HLA matching.
|
11427142 |
2001 |
|
Neoplastic Syndromes, Hereditary
|
|
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 |
|
Fanconi Anemia
|
|
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 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
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 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.700 |
CausalMutation
|
CLINVAR |
Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.
|
9207444 |
1997 |
|
Neoplastic Syndromes, Hereditary
|
|
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 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
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 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.700 |
CausalMutation
|
CLINVAR |
Carrier frequency of the IVS4 + 4 A-->T mutation of the Fanconi anemia gene FAC in the Ashkenazi Jewish population.
|
7492758 |
1995 |
|
Fanconi Anemia
|
|
0.700 |
CausalMutation
|
CLINVAR |
The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.
|
8081385 |
1994 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.700 |
CausalMutation
|
CLINVAR |
The Ashkenazi Jewish Fanconi anemia mutation: incidence among patients and carrier frequency in the at-risk population.
|
8081385 |
1994 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of the Fanconi anemia gene FACC.
|
8128956 |
1994 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.
|
8348157 |
1993 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.700 |
CausalMutation
|
CLINVAR |
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.
|
8348157 |
1993 |
|
Fanconi Anemia
|
|
0.700 |
CausalMutation
|
CLINVAR |
A common mutation in the FACC gene causes Fanconi anaemia in Ashkenazi Jews.
|
8348157 |
1993 |