KMT2D c.13669_13671del ;(p.Q4557del)

Variant ID: 12-49424676-CCTG-C

NM_003482.3(KMT2D):c.13669_13671del;(p.Q4557del)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Frontiers In Molecular Biosciences
Bukowska-Olech, Ewelina E; Sowińska-Seidler, Anna A; Larysz, Dawid D; Gawliński, Paweł P; Koczyk, Grzegorz G; Popiel, Delfina D; Gurba-Bryśkiewicz, Lidia L; Materna-Kiryluk, Anna A; Adamek, Zuzanna Z; Szczepankiewicz, Aleksandra A; Dominiak, Paweł P; Glista, Filip F; Matuszewska, Karolina K; Jamsheer, Aleksander A
Publication Date: 2022

Variant appearance in text: KMT2D: Gln4557del
PubMed Link: 35591945
Variant Present in the following documents:
  • Table6.xlsx, sheet 1
View BVdb publication page