POLE c.11G>A ;(p.R4K)

Variant ID: 12-133263891-C-T

NM_006231.2(POLE):c.11G>A;(p.R4K)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

Clinical Immunology (Orlando, Fla.)
van Schouwenburg, Pauline A PA; Davenport, Emma E EE; Kienzler, Anne-Kathrin AK; Marwah, Ishita I; Wright, Benjamin B; Lucas, Mary M; Malinauskas, Tomas T; Martin, Hilary C HC; , ; Lockstone, Helen E HE; Cazier, Jean-Baptiste JB; Chapel, Helen M HM; Knight, Julian C JC; Patel, Smita Y SY
Publication Date: 2015-10

Variant appearance in text: POLE: 11G>A; R4H
PubMed Link: 26122175
Variant Present in the following documents:
  • Main text
  • NIHMS64345-supplement-Supplementary_tables.xlsx, sheet 5
View BVdb publication page