Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.L136P
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RUNX2

NM_001024630.4:p.L136P

Associated Papers

Rare Findings in Cleidocranial Dysplasia Caused by RUNX Mutation.

Kalayci Yigin A et al.

Global Medical Genetics, 2022

Functional analysis of novel RUNX2 mutations identified in patients with cleidocranial dysplasia.

Hordyjewska-Kowalczyk E et al.

Clinical Genetics, 2019

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

Deletions of the RUNX2 gene are present in about 10% of individuals with cleidocranial dysplasia.

Ott CE et al.

Human Mutation, 2010

A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails.

Tang S et al.

Bmc Medical Genetics, 2007

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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."