KMT2D c.3809C>G ;(p.S1270*)

Variant ID: 12-49443562-G-C

NM_003482.3(KMT2D):c.3809C>G;(p.S1270*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Inborn Errors of Immunity in Latvia: Analysis of Data from 1994 to 2020.

Journal Of Clinical Immunology
Prokofjeva, Tatjana T; Lucane, Zane Z; Kovalova, Zanna Z; Kurjane, Natalja N
Publication Date: 2022-05

Variant appearance in text: KMT2D: 3809C>G
PubMed Link: 35201558
Variant Present in the following documents:
  • 10875_2022_1229_MOESM1_ESM.pdf
View BVdb publication page