Bibliome.ai browser hg19
Search
About
Stats
FAQ
KMT2D c.3438dup ;(p.E1147*)
Variant ID: 12-49443932-C-CA
NM_003482.3(
KMT2D
):c.3438dup;(p.E1147*)
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:
Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital Hyperinsulinism
Journal Of Clinical Research In Pediatric Endocrinology
Razzaghy-Azar, Maryam M; Saeedi, Saeedeh S; Dayani, Sepideh Borhan SB; Enayati, Samaneh S; Abbasi, Farzaneh F; Hashemian, Somayyeh S; Eshraghi, Peyman P; Karimdadi, Siroos S; Tajdini, Parisa P; Vakili, Rahim R; Amoli, Mahsa M. MM; Yaghootkar, Hanieh H
Publication Date: 2022-03-03
Variant appearance in text: KMT2D: 3438dup
PubMed Link:
34927408
Variant Present in the following documents:
JCRPE-14-87.pdf
View BVdb publication page