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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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