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Article

A novel mutation (G1249R) in exon 20 of the CFTR gene.

Human mutation - 1 Jan 1994

Dijkstra D J, Scheffer H, Buys C H

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Share to Cystic Fibrosis
Share to Cystic Fibrosis Transmembrane Conductance Regulator
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 7526929
DOI: 10.1002/humu.1380040213

Genes

CFTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel mutation (G1249R) in exon 20 of the CFTR gene.PMID 7526929Read ↗

A polymorphism in intron 20 of the CFTR gene.Semantic proximity Read ↗

A new missense mutation (R1283M) in exon 20 of the cystic fibrosis transmembrane conductance regulator gene.Semantic proximity Read ↗

G1244V: a novel missense mutation in exon 20 of the CFTR gene in a Bulgarian cystic fibrosis patient.Semantic proximity Read ↗

A novel missense mutation, S1159F, in exon 19 of the CFTR gene.Semantic proximity Read ↗

A novel splice mutation, 4006-1G>A, in intron 21 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

Identification of two novel mutations in the CFTR gene: 3007 del G and 3271 + 1 G-->A.Semantic proximity Read ↗

Novel mutation (A141D) in exon 4 of the CFTR gene identified in an Algerian patient.Semantic proximity Read ↗

Mutations and sequence variations detected in the cystic fibrosis transmembrane conductance regulator (CFTR) gene: a report from the Cystic Fibrosis Genetic Analysis Consortium.Semantic proximity Read ↗

Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.Semantic proximity Read ↗

Missense variation of the CFTR gene codon 507.Semantic proximity Read ↗

A novel stop mutation in exon 18 (W1145X) of the CFTR (ABCC7) gene in an adult CF patient.Semantic proximity Read ↗

Two novel frame-shift mutations: 977 insA in exon 6B, and 4016 insT in exon 21, of the cystic fibrosis transmembrane conductance regulator (CFTR) gene.Semantic proximity Read ↗

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