KMT2D c.857_858del ;(p.S286*)

Variant ID: 12-49447085-TAG-T

NM_003482.3(KMT2D):c.857_858del;(p.S286*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Expanding the Oro-Dental and Mutational Spectra of Kabuki Syndrome and Expression of KMT2D and KDM6A in Human Tooth Germs.

International Journal Of Biological Sciences
Porntaveetus, Thantrira T; Abid, Mushriq F MF; Theerapanon, Thanakorn T; Srichomthong, Chalurmpon C; Ohazama, Atsushi A; Kawasaki, Katsushige K; Kawasaki, Maiko M; Suphapeetiporn, Kanya K; Sharpe, Paul T PT; Shotelersuk, Vorasuk V
Publication Date: 2018

Variant appearance in text: KMT2D: 855_856delCT; S286X
PubMed Link: 29725259
Variant Present in the following documents:
  • Main text
  • ijbsv14p0381.pdf
View BVdb publication page