Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.M1028R
Back to variants list

CFTR

NM_000492.4:p.M1028R

Associated Papers

Guidelines for the clinical management and follow-up of infants with inconclusive cystic fibrosis diagnosis through newborn screening.

Sermet-Gaudelus I et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017

[Management of infants whose diagnosis is inconclusive at neonatal screening for cystic fibrosis].

Sermet-Gaudelus I et al.

Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2017

Influence of Pathogenic Mutations on the Energetics of Translocon-Mediated Bilayer Integration of Transmembrane Helices.

Schlebach JP et al.

The Journal of Membrane Biology, 2015

PGD for cystic fibrosis patients and couples at risk of an additional genetic disorder combined with 24-chromosome aneuploidy testing.

Rechitsky S et al.

Reproductive Biomedicine Online, 2013

Association of CFTR gene mutation with bronchial asthma.

Maurya N et al.

The Indian Journal of Medical Research, 2012

Polar mutations in membrane proteins as a biophysical basis for disease.

Partridge AW et al.

Biopolymers, 2002

Missense mutations in the cystic fibrosis gene in adult patients with asthma.

Lázaro C et al.

Human Mutation, 1999

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."