KMT2D c.12696G>T ;(p.Q4232H)

Variant ID: 12-49425792-C-A

NM_003482.3(KMT2D):c.12696G>T;(p.Q4232H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Kabuki syndrome: novel pathogenic variants, new phenotypes and review of literature.

Orphanet Journal Of Rare Diseases
Shangguan, Huakun H; Su, Chang C; Ouyang, Qian Q; Cao, Bingyan B; Wang, Jian J; Gong, Chunxiu C; Chen, Ruimin R
Publication Date: 2019-11-14

Variant appearance in text: KMT2D: Q4232H
PubMed Link: 31727177
Variant Present in the following documents:
  • Main text
  • 13023_2019_Article_1219.pdf
View BVdb publication page