TG c.2052_2053insA ;(p.P685Tfs*5)

Variant ID: 8-133899669-C-CA

NM_003235.4(TG):c.2052_2053insA;(p.P685Tfs*5)

This variant was identified in 4 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: 2052_2053insA
PubMed Link: 36949472
Variant Present in the following documents:
  • 13063_2023_7076_MOESM2_ESM.pdf
View BVdb publication page



The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.

European Journal Of Human Genetics : Ejhg
Girardet, Anne A; Viart, Victoria V; Plaza, Stéphanie S; Daina, Gemma G; De Rycke, Martine M; Des Georges, Marie M; Fiorentino, Francesco F; Harton, Gary G; Ishmukhametova, Aliya A; Navarro, Joaquima J; Raynal, Caroline C; Renwick, Pamela P; Saguet, Florielle F; Schwarz, Martin M; SenGupta, Sioban S; Tzetis, Maria M; Roux, Anne-Françoise AF; Claustres, Mireille M
Publication Date: 2016-04

Variant appearance in text: TG: 2052_2053insA
PubMed Link: 26014425
Variant Present in the following documents:
  • Main text
  • ejhg201599a.pdf
View BVdb publication page



Improving newborn screening for cystic fibrosis using next-generation sequencing technology: a technical feasibility study.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Baker, Mei W MW; Atkins, Anne E AE; Cordovado, Suzanne K SK; Hendrix, Miyono M; Earley, Marie C MC; Farrell, Philip M PM
Publication Date: 2016-03

Variant appearance in text: TG: 2052_2053insA
PubMed Link: 25674778
Variant Present in the following documents:
  • Main text
View BVdb publication page



SNaPshot assay for the detection of the most common CFTR mutations in infertile men.

Plos One
Noveski, Predrag P; Madjunkova, Svetlana S; Mircevska, Marija M; Plaseski, Toso T; Filipovski, Vanja V; Plaseska-Karanfilska, Dijana D
Publication Date: 2014

Variant appearance in text: TG: 2052_2053insA
PubMed Link: 25386751
Variant Present in the following documents:
  • Main text
  • pone.0112498.pdf
View BVdb publication page