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.




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