HP c.826G>T ;(p.G276W)

Variant ID: 16-72094394-G-T

NM_005143.3(HP):c.826G>T;(p.G276W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional characterization of novel ABCB6 mutations and their clinical implications in familial pseudohyperkalemia.

Haematologica
Andolfo, Immacolata I; Russo, Roberta R; Manna, Francesco F; De Rosa, Gianluca G; Gambale, Antonella A; Zouwail, Soha S; Detta, Nicola N; Pardo, Catia Lo CL; Alper, Seth L SL; Brugnara, Carlo C; Sharma, Alok K AK; De Franceschi, Lucia L; Iolascon, Achille A
Publication Date: 2016-08

Variant appearance in text: HP: 826G>T
PubMed Link: 27151991
Variant Present in the following documents:
  • Main text
View BVdb publication page