WDR43 c.534A>C ;(p.P178=)

Variant ID: 2-29135504-A-C

NM_015131.1(WDR43):c.534A>C;(p.P178=)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


In-depth characterization of intratumoral heterogeneity in refractory B-cell non-Hodgkin lymphoma through the lens of a Research Autopsy Program.

Haematologica
Isaev, Keren K; Liu, Ting T; Bakhtiari, Mehran M; Tong, Kit K; Goswami, Rashmi R; Lam, Bernard B; Lungu, Ilinca I; Krzyzanowski, Paul M PM; Oza, Amit A; Dhani, Neesha N; Prica, Anca A; Crump, Michael M; Kridel, Robert R
Publication Date: 2022-06-23

Variant appearance in text: WDR43: P178P
PubMed Link: 35734926
Variant Present in the following documents:
  • 2022_280900_ISAEV_TABS4_SUPPL.xlsx, sheet 2
View BVdb publication page



Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One
PatiƱo, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P
Publication Date: 2014

Variant appearance in text: WDR43: P178P
PubMed Link: 25333361
Variant Present in the following documents:
  • pone.0109576.s003.xls, sheet 3
View BVdb publication page