HP c.723del ;(p.Y242Tfs*4)

Variant ID: 16-72094291-AC-A

NM_005143.3(HP):c.723del;(p.Y242Tfs*4)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Plasmid-Based Materials as Multiplex Quality Controls and Calibrators for Clinical Next-Generation Sequencing Assays.

The Journal Of Molecular Diagnostics : Jmd
Sims, David J DJ; Harrington, Robin D RD; Polley, Eric C EC; Forbes, Thomas D TD; Mehaffey, Michele G MG; McGregor, Paul M PM; Camalier, Corinne E CE; Harper, Kneshay N KN; Bouk, Courtney H CH; Das, Biswajit B; Conley, Barbara A BA; Doroshow, James H JH; Williams, P Mickey PM; Lih, Chih-Jian CJ
Publication Date: 2016-05

Variant appearance in text: HP: 723delC
PubMed Link: 27105923
Variant Present in the following documents:
  • Main text
View BVdb publication page