Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.R190P
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RUNX2

NM_001024630.4:p.R190P

Associated Papers

Whole-exome sequencing of a novel initiation codon mutation in RUNX2 in a Chinese family with cleidocranial dysplasia.

Yang L et al.

Medicine, 2021

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

Hordyjewska-Kowalczyk E et al.

Clinical Genetics, 2019

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

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

RUNX2 analysis of Danish cleidocranial dysplasia families.

Hansen L et al.

Clinical Genetics, 2011

Perspectives on RUNX genes: an update.

Cohen MM

American Journal of Medical Genetics. Part A, 2009

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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."