Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R193G
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RUNX2

NM_001024630.4:p.R193G

Associated Papers

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

Berkay EG et al.

American Journal of Medical Genetics. Part A, 2021

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

Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.

Zeng L et al.

Mutagenesis, 2017

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