Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.W518fs
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RUNX2

NM_001024630.4:p.W518fs

Associated Papers

New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.

Toral López J et al.

Biology, 2024

Functional consequences of C-terminal mutations in RUNX2.

Thaweesapphithak S et al.

Scientific Reports, 2023

Identification a novel de novo RUNX2 frameshift mutation associated with cleidocranial dysplasia.

Gong L et al.

Genes & Genomics, 2022

Identification of a Novel Mutation in the Runt-Related Transcription Factor 2 Gene in a Chinese Family With Cleidocranial Dysplasia.

Zhao W et al.

The Journal of Craniofacial Surgery, 2021

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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."