CFTR c.2657+3del

Variant ID: 7-117242920-TG-T

NM_000492.3(CFTR):c.2657+3del

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Experimental assessment of splicing variants using expression minigenes and comparison with in silico predictions.

Human Mutation
Sharma, Neeraj N; Sosnay, Patrick R PR; Ramalho, Anabela S AS; Douville, Christopher C; Franca, Arianna A; Gottschalk, Laura B LB; Park, Jeenah J; Lee, Melissa M; Vecchio-Pagan, Briana B; Raraigh, Karen S KS; Amaral, Margarida D MD; Karchin, Rachel R; Cutting, Garry R GR
Publication Date: 2014-10

Variant appearance in text: CFTR: 2657+3delG
PubMed Link: 25066652
Variant Present in the following documents:
  • Main text
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