Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.*522S
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RUNX2

NM_001024630.4:p.*522S

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.

Identification of a novel mutation of RUNX2 in a family with supernumerary teeth and craniofacial dysplasia by whole-exome sequencing: A case report and literature review.

Ma D et al.

Medicine, 2018

30095610 (PubMed )
Supplement: medi-97-e11328-s001.doc

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Jaruga A et al.

Clinical Genetics, 2016

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

New mutations in the CBFA1 gene in two Mexican patients with cleidocranial dysplasia.

Machuca-Tzili L et al.

Clinical Genetics, 2002

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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."