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KMT2D c.548del ;(p.P183Lfs*25)
Variant ID: 12-49447885-AG-A
NM_003482.3(
KMT2D
):c.548del;(p.P183Lfs*25)
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:
The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance.
Epigenetics
Aref-Eshghi, Erfan E; Schenkel, Laila C LC; Lin, Hanxin H; Skinner, Cindy C; Ainsworth, Peter P; Paré, Guillaume G; Rodenhiser, David D; Schwartz, Charles C; Sadikovic, Bekim B
Publication Date: 2017
Variant appearance in text: KMT2D: 548delC
PubMed Link:
28933623
Variant Present in the following documents:
Main text
View BVdb publication page