Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.G462*
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RUNX2

NM_001024630.4:p.G462*

Associated Papers

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.

Thaweesapphithak S et al.

Journal of Translational Medicine, 2024

39627759 (PubMed )
Supplement: 12967_2024_5904_MOESM1_ESM.xlsx › Supplement_table_1.

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

Cleidocranial dysplasia and novel RUNX2 variants: dental, craniofacial, and osseous manifestations.

Thaweesapphithak S et al.

Journal of Applied Oral Science : Revista Fob, 2022

35674542 (PubMed )
Supplement: 1678-7757-jaos-30-e20220028-supl1.pdf

A novel RUNX2 mutation in exon 8, G462X, in a patient with Cleidocranial Dysplasia.

Jung YJ et al.

Journal of Cellular Biochemistry, 2018

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