Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.L113R
Back to variants list

RUNX2

NM_001024630.4:p.L113R

Associated Papers

New Genetic Variants of RUNX2 in Mexican Families Cause Cleidocranial Dysplasia.

Toral López J et al.

Biology, 2024

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

Analysis of novel RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

Zhang X et al.

Plos One, 2017

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Jaruga A et al.

Clinical Genetics, 2016

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

Mutations in the RUNX2 gene in patients with cleidocranial dysplasia.

Otto F et al.

Human Mutation, 2002

Mutation analysis of core binding factor A1 in patients with cleidocranial dysplasia.

Quack I et al.

American Journal of Human Genetics, 1999

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."