Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R193Q
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RUNX2

NM_001024630.4:p.R193Q

Associated Papers

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL17

Clinical relevance of targeted exome sequencing in patients with rare syndromic short stature.

Kamil G et al.

Orphanet Journal of Rare Diseases, 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

Cleidocranial dysplasia and RUNX2-clinical phenotype-genotype correlation.

Jaruga A et al.

Clinical Genetics, 2016

Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient.

Lu H et al.

Imaging Science in Dentistry, 2015

Intraparenchymal hemorrhage in a neonate with cleidocranial dysostosis.

Gardner MA et al.

Pediatric Neurology, 2012

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

Ott CE et al.

Human Mutation, 2010

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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."