RUNX2 c.577C>A ;(p.R193=)

Variant ID: 6-45399753-C-A

NM_001024630.3(RUNX2):c.577C>A;(p.R193=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


NGS Gene Panel Analysis Revealed Novel Mutations in Patients with Rare Congenital Diarrheal Disorders.

Diagnostics (Basel, Switzerland)
Esposito, Maria Valeria MV; Comegna, Marika M; Cernera, Gustavo G; Gelzo, Monica M; Paparo, Lorella L; Berni Canani, Roberto R; Castaldo, Giuseppe G
Publication Date: 2021-02-08

Variant appearance in text: CCD: 577C>A
PubMed Link: 33567694
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00262.pdf
View BVdb publication page