CFTR c.273G>T ;(p.G91=)

Variant ID: 7-117149196-G-T

NM_000492.3(CFTR):c.273G>T;(p.G91=)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Acute Recurrent and Chronic Pancreatitis as Initial Manifestations of Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders.

Pancreas
Baldwin, Christina C; Zerofsky, Melissa M; Sathe, Meghana M; Troendle, David M DM; Perito, Emily R ER
Publication Date: 2019-08

Variant appearance in text: CFTR: G91G
PubMed Link: 31268981
Variant Present in the following documents:
  • Main text
View BVdb publication page



Trans-heterozygosity for mutations enhances the risk of recurrent/chronic pancreatitis in patients with Cystic Fibrosis.

Molecular Medicine (Cambridge, Mass.)
Sofia, Valentina Maria VM; Surace, Cecilia C; Terlizzi, Vito V; Da Sacco, Letizia L; Alghisi, Federico F; Angiolillo, Antonella A; Braggion, Cesare C; Cirilli, Natalia N; Colombo, Carla C; Di Lullo, Antonella A; Padoan, Rita R; Quattrucci, Serena S; Raia, Valeria V; Tuccio, Giuseppe G; Zarrilli, Federica F; Tomaiuolo, Anna Cristina AC; Novelli, Antonio A; Lucidi, Vincenzina V; Lucarelli, Marco M; Castaldo, Giuseppe G; Angioni, Adriano A
Publication Date: 2018-07-27

Variant appearance in text: CFTR: G91G
PubMed Link: 30134826
Variant Present in the following documents:
  • Main text
  • 10020_2018_Article_41.pdf
View BVdb publication page



Changes in cystic fibrosis airway microbial community associated with a severe decline in lung function.

Plos One
Paganin, Patrizia P; Fiscarelli, Ersilia Vita EV; Tuccio, Vanessa V; Chiancianesi, Manuela M; Bacci, Giovanni G; Morelli, Patrizia P; Dolce, Daniela D; Dalmastri, Claudia C; De Alessandri, Alessandra A; Lucidi, Vincenzina V; Taccetti, Giovanni G; Mengoni, Alessio A; Bevivino, Annamaria A
Publication Date: 2015

Variant appearance in text: CFTR: G91G
PubMed Link: 25898134
Variant Present in the following documents:
  • pone.0124348.s003.pdf
View BVdb publication page