Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R169Q
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RUNX2

NM_001024630.4:p.R169Q

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

Perspectives on RUNX genes: an update.

Cohen MM

American Journal of Medical Genetics. Part A, 2009

Crystal structures of the N-terminal domains of cardiac and skeletal muscle ryanodine receptors: insights into disease mutations.

Lobo PA et al.

Structure (london, England : 1993), 2009

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Ryu GM et al.

Nucleic Acids Research, 2009

19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeIII

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

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

Otto F et al.

Human Mutation, 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."