CFTR c.2392C>G ;(p.P798A)

Variant ID: 7-117232613-C-G

NM_000492.3(CFTR):c.2392C>G;(p.P798A)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.

Frontiers In Pediatrics
Imafidon, Miriam E ME; Sikkema-Raddatz, Birgit B; Abbott, Kristin M KM; Meems-Veldhuis, Martine T MT; Swertz, Morris A MA; van der Velde, K Joeri KJ; Beunders, Gea G; Bos, Dennis K DK; Knoers, Nine V A M NVAM; Kerstjens-Frederikse, Wilhelmina S WS; van Diemen, Cleo C CC
Publication Date: 2021

Variant appearance in text: CFTR: 2392C>G
PubMed Link: 34136434
Variant Present in the following documents:
  • Main text
  • fped-09-600556.pdf
View BVdb publication page