Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.S128insFs
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RUNX2

NM_001024630.4:p.S128insFs

Associated Papers

Perspectives on RUNX genes: an update.

Cohen MM

American Journal of Medical Genetics. Part A, 2009

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

[Anomalies of the skull in cleidocranial dysplasia].

Golan I et al.

Hno, 2004

Evidence of intrafamilial variability of CBFA1/RUNX2 expression in cleidocranial dysplasia--a family study.

Golan I et al.

Journal of Orofacial Orthopedics = Fortschritte Der Kieferorthopadie : Organ/official Journal Deutsche Gesellschaft Fur Kieferorthopadie, 2002

Identification of a novel frameshift mutation (383insT) in the RUNX2 (PEBP2 alpha/CBFA1/AML3) gene in a Japanese patient with cleidocranial dysplasia.

Goseki-Sone M et al.

Journal of Bone and Mineral Metabolism, 2001

A case of Japanese cleidocranial dysplasia with a CBFA1 frameshift mutation.

Yokozeki M et al.

Journal of Craniofacial Genetics and Developmental Biology, 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."