| Geno
|
Mag
|
Summary
|
| (A;G)
|
3
|
cystic fibrosis carrier (most likely)
|
| (G;G)
|
0
|
common in clinvar
|
[PMID 1284534] Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.
[PMID 7521710] Sensitivity of single-strand conformation polymorphism and heteroduplex method for mutation detection in the cystic fibrosis gene.
[PMID 8844213] Haplotype analysis of 94 cystic fibrosis mutations with seven polymorphic CFTR DNA markers.
[PMID 10923036] Spectrum of CFTR mutations in cystic fibrosis and in congenital absence of the vas deferens in France.
[PMID 11379874] Complete and rapid scanning of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by denaturing high-performance liquid chromatography (D-HPLC): major implications for genetic counselling.
[PMID 12124743] Genotype-phenotype correlation in cystic fibrosis: the role of modifier genes.
