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KMT2D c.9164del ;(p.P3055Lfs*16)
Variant ID: 12-49431974-AG-A
NM_003482.3(
KMT2D
):c.9164del;(p.P3055Lfs*16)
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:
Kabuki syndrome: clinical and molecular characteristics.
Korean Journal Of Pediatrics
Cheon, Chong-Kun CK; Ko, Jung Min JM
Publication Date: 2015-09
Variant appearance in text: KMT2D: 9164delC; P3055Lfs*16
PubMed Link:
26512256
Variant Present in the following documents:
Main text
kjped-58-317.pdf
View BVdb publication page