WNK4 c.1826del ;(p.P609Hfs*52)

Variant ID: 17-40939878-GC-G

NM_032387.4(WNK4):c.1826del;(p.P609Hfs*52)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Inherited salt-losing tubulopathies are associated with immunodeficiency due to impaired IL-17 responses.

Nature Communications
Evans, Rhys D R RDR; Antonelou, Marilina M; Sathiananthamoorthy, Sanchutha S; Rega, Marilena M; Henderson, Scott S; Ceron-Gutierrez, Lourdes L; Barcenas-Morales, Gabriela G; Müller, Christoph A CA; Doffinger, Rainer R; Walsh, Stephen B SB; Salama, Alan D AD
Publication Date: 2020-08-31

Variant appearance in text: WNK4: 1825del
PubMed Link: 32868758
Variant Present in the following documents:
  • 41467_2020_18184_MOESM1_ESM.pdf
View BVdb publication page