SETD6 c.*2620T>A

Variant ID: 16-58555553-T-A

NM_001160305.1(SETD6):c.*2620T>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

American Journal Of Human Genetics
Volpi, Ludovica L; Roversi, Gaia G; Colombo, Elisa Adele EA; Leijsten, Nico N; Concolino, Daniela D; Calabria, Andrea A; Mencarelli, Maria Antonietta MA; Fimiani, Michele M; Macciardi, Fabio F; Pfundt, Rolph R; Schoenmakers, Eric F P M EF; Larizza, Lidia L
Publication Date: 2010-01

Variant appearance in text: rs9939133
PubMed Link: 20004881
Variant Present in the following documents:
  • Main text
View BVdb publication page