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KMT2D c.12277_12278delinsTA ;(p.P4093*)
Variant ID: 12-49426210-GG-TA
NM_003482.3(
KMT2D
):c.12277_12278delinsTA;(p.P4093*)
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:
MLL4-associated condensates counterbalance Polycomb-mediated nuclear mechanical stress in Kabuki syndrome.
Nature Genetics
Fasciani, Alessandra A; D'Annunzio, Sarah S; Poli, Vittoria V; Fagnocchi, Luca L; Beyes, Sven S; Michelatti, Daniela D; Corazza, Francesco F; Antonelli, Laura L; Gregoretti, Francesco F; Oliva, Gennaro G; Belli, Romina R; Peroni, Daniele D; Domenici, Enrico E; Zambrano, Samuel S; Intartaglia, Daniela D; Settembre, Carmine C; Conte, Ivan I; Testi, Claudia C; Vergyris, Panagiotis P; Ruocco, Giancarlo G; Zippo, Alessio A
Publication Date: 2020-12
Variant appearance in text: KMT2D: P4093X
PubMed Link:
33169020
Variant Present in the following documents:
Main text
View BVdb publication page