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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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