Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R229Splc
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RUNX2

NM_001024630.4:p.R229Splc

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.

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

Hordyjewska-Kowalczyk E et al.

Clinical Genetics, 2019

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

Otto F et al.

Human Mutation, 2002

CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia.

Zhou G et al.

Human Molecular Genetics, 1999

Mutations and promoter SNPs in RUNX2, a transcriptional regulator of bone formation.

Napierala D et al.

Molecular Genetics and Metabolism, 0

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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."