|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Next generation diagnostics of cystic fibrosis and CFTR-related disorders by targeted multiplex high-coverage resequencing of CFTR.
|
23687349 |
2013 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.
|
23974870 |
2013 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel CFTR variants identified during the first 3 years of cystic fibrosis newborn screening in California.
|
23810505 |
2013 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
CFTR allelic heterogeneity in Mexican patients with cystic fibrosis: implications for molecular screening.
|
21416780 |
2011 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Mutation nomenclature in practice: findings and recommendations from the cystic fibrosis external quality assessment scheme.
|
21796730 |
2011 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of mutations in the CFTR gene in cystic fibrosis patients of Spanish ancestry.
|
17331079 |
2007 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Comprehensive genetic analysis of the cystic fibrosis transmembrane conductance regulator from dried blood specimens--implications for newborn screening.
|
16980811 |
2006 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic testing by CFTR gene mutation analysis in a large group of Hispanics: novel mutations and assessment of a population-specific mutation spectrum.
|
15858154 |
2005 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.
|
16049310 |
2005 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Identification of novel and rare mutations in California Hispanic and African American cystic fibrosis patients.
|
15365999 |
2004 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Cystic fibrosis: a worldwide analysis of CFTR mutations--correlation with incidence data and application to screening.
|
12007216 |
2002 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Improved detection of CFTR mutations in Southern California Hispanic CF patients.
|
11668613 |
2001 |
|
rs121908792
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Spectrum of CFTR mutations in Mexican cystic fibrosis patients: identification of five novel mutations (W1098C, 846delT, P750L, 4160insGGGG and 297-1G-->A).
|
10798368 |
2000 |
|
rs121908792
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
Identification of a new splicing mutation (406-1 G-C) in the CFTR gene.
|
1284541 |
1992 |