CFTR c.764del ;(p.I255Tfs*6)

Variant ID: 7-117176622-AT-A

NM_000492.3(CFTR):c.764del;(p.I255Tfs*6)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Validation of a Custom Next-Generation Sequencing Assay for Cystic Fibrosis Newborn Screening.

International Journal Of Neonatal Screening
Sicko, Robert J RJ; Stevens, Colleen F CF; Hughes, Erin E EE; Leisner, Melissa M; Ling, Helen H; Saavedra-Matiz, Carlos A CA; Caggana, Michele M; Kay, Denise M DM
Publication Date: 2021-11-02

Variant appearance in text: CFTR: 764delT
PubMed Link: 34842611
Variant Present in the following documents:
  • Main text
  • IJNS-07-00073.pdf
View BVdb publication page