KMT2D c.14113_14123del ;(p.I4705Ffs*4)

Variant ID: 12-49422971-AGCTGGCACAAT-A

NM_003482.3(KMT2D):c.14113_14123del;(p.I4705Ffs*4)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical Application of Whole Exome Sequencing for Monogenic Disorders in PICU of China.

Frontiers In Genetics
Liu, Yingchao Y; Hao, Chanjuan C; Li, Kechun K; Hu, Xuyun X; Gao, Hengmiao H; Zeng, Jiansheng J; Guo, Ruolan R; Liu, Jun J; Guo, Jun J; Li, Zheng Z; Qi, Zhan Z; Jia, Xinlei X; Li, Wei W; Qian, Suyun S
Publication Date: 2021

Variant appearance in text: KMT2D: 14113_14123del; Ile4705Phefs*4
PubMed Link: 34539730
Variant Present in the following documents:
  • Main text
  • Table_1.xlsx, sheet 1
  • fgene-12-677699.pdf
View BVdb publication page