TG c.3763_3765delinsTGA ;(p.S1255*)

Variant ID: 8-133919061-AGC-TGA

NM_003235.4(TG):c.3763_3765delinsTGA;(p.S1255*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


BEAT CF pulmonary exacerbations core protocol for evaluating the management of pulmonary exacerbations in people with cystic fibrosis.

Trials
Schultz, Andre A; McLeod, Charlie C; Berry, Scott S; Marsh, Julie J; McKenzie, Anne A; Messer, Mitch M; Wood, Jamie J; Saville, Ben B; Jaffe, Adam A; Ranganathan, Sarath S; Stick, Steve S; Wark, Peter P; Webb, Steve S; Snelling, Tom T
Publication Date: 2023-03-22

Variant appearance in text: TG: Ser1255X
PubMed Link: 36949472
Variant Present in the following documents:
  • 13063_2023_7076_MOESM2_ESM.pdf
View BVdb publication page



Genotyping microarray for the detection of more than 200 CFTR mutations in ethnically diverse populations.

The Journal Of Molecular Diagnostics : Jmd
Schrijver, Iris I; Oitmaa, Eneli E; Metspalu, Andres A; Gardner, Phyllis P
Publication Date: 2005-08

Variant appearance in text: TG: S1255X
PubMed Link: 16049310
Variant Present in the following documents:
  • Main text
View BVdb publication page