|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The Fanconi Anemia C Protein Binds to and Regulates Stathmin-1 Phosphorylation.
|
26466335 |
2015 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The Fanconi anemia pathway has a dual function in Dickkopf-1 transcriptional repression.
|
24469828 |
2014 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
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 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Carrier screening in individuals of Ashkenazi Jewish descent.
|
18197057 |
2008 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
CausalMutation
|
CLINVAR |
Should chromosome breakage studies be performed in patients with VACTERL association?
|
16015582 |
2005 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).
|
15299030 |
2004 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
CLINVAR |
FANCE: the link between Fanconi anaemia complex assembly and activity.
|
12093742 |
2002 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The Fanconi anemia complementation group C gene product: structural evidence of multifunctionality.
|
11520787 |
2001 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2.
|
9242535 |
1997 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
CLINVAR |
The Fanconi anemia polypeptide, FAC, binds to the cyclin-dependent kinase, cdc2.
|
9242535 |
1997 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Phenotypic consequences of mutations in the Fanconi anemia FAC gene: an International Fanconi Anemia Registry study.
|
9207444 |
1997 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Positive diepoxybutane test in only one of two brothers found to be compound heterozygotes for Fanconi's anaemia complementation group C mutations.
|
8703809 |
1996 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations and polymorphisms in the Fanconi anemia group C gene.
|
8844212 |
1996 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Mutation analysis of the Fanconi anemia gene FACC.
|
8128956 |
1994 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the Fanconi anemia gene FACC.
|
8128956 |
1994 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
CLINVAR |
A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.
|
8499901 |
1993 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A Leu554-to-Pro substitution completely abolishes the functional complementing activity of the Fanconi anemia (FACC) protein.
|
8499901 |
1993 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP C
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Cloning of cDNAs for Fanconi's anaemia by functional complementation.
|
1574115 |
1992 |
|
Fanconi Anemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
A known mutant allele of FAC resulting from the substitution of Pro for Leu at codon 554 fails to correct the sensitivity of FA group C cells to mitomycin C. We reasoned that overexpression of the mutant protein in a wild-type cellular background might induce the FA phenotype by competing with endogenous FAC for binding to the accessory proteins.
|
8613549 |
1996 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
|
0.020 |
GeneticVariation
|
BEFREE |
A known mutant allele of FAC resulting from the substitution of Pro for Leu at codon 554 fails to correct the sensitivity of FA group C cells to mitomycin C. We reasoned that overexpression of the mutant protein in a wild-type cellular background might induce the FA phenotype by competing with endogenous FAC for binding to the accessory proteins.
|
8613549 |
1996 |
|
Fanconi Anemia
|
|
0.020 |
GeneticVariation
|
BEFREE |
A T-to-C transition at base 1,661 in the open reading frame is the only change found to date in the FA(C) cell line, resulting in a codon substitution from leucine554 to proline.
|
8499901 |
1993 |
|
FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder)
|
|
0.020 |
GeneticVariation
|
BEFREE |
A T-to-C transition at base 1,661 in the open reading frame is the only change found to date in the FA(C) cell line, resulting in a codon substitution from leucine554 to proline.
|
8499901 |
1993 |