Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.T220I
Back to variants list

RUNX2

NM_001024630.4:p.T220I

Associated Papers

Isolated polyhydramnios: Is a genetic evaluation of value?

Lin XM et al.

European Journal of Obstetrics, Gynecology, and Reproductive Biology, 2024

Skeletal and molecular findings in 51 Cleidocranial dysplasia patients from Turkey.

Berkay EG et al.

American Journal of Medical Genetics. Part A, 2021

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.

Hordyjewska-Kowalczyk E et al.

Clinical Genetics, 2019

Cleidocranial dysplasia with severe parietal bone dysplasia: C-terminal RUNX2 mutations.

Cunningham ML et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2006

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."