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RUNX2 c.1265T>C ;(p.L422P)
Variant ID: 6-45514741-T-C
NM_001024630.3(
RUNX2
):c.1265T>C;(p.L422P)
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:
Mutants affecting the structure of the cortical endoplasmic reticulum in Saccharomyces cerevisiae.
The Journal Of Cell Biology
Prinz, W A WA; Grzyb, L L; Veenhuis, M M; Kahana, J A JA; Silver, P A PA; Rapoport, T A TA
Publication Date: 2000-08-07
Variant appearance in text: CCD: L422P
PubMed Link:
10931860
Variant Present in the following documents:
Main text
0003105.pdf
View BVdb publication page