Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.A80A
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RUNX2

NM_001024630.4:p.A80A

Associated Papers

WNT10A and RUNX2 mutations associated with non-syndromic tooth agenesis.

Živković M et al.

European Journal of Oral Sciences, 2022

Cleidocranial dysplasia: Clinical, endocrinologic and molecular findings in 15 patients from 11 families.

Dinçsoy Bir F et al.

European Journal of Medical Genetics, 2017

Manifestation and treatment in a cleidocranial dysplasia patient with a RUNX2 (T420I) mutation.

Lee C et al.

Maxillofacial Plastic and Reconstructive Surgery, 2015

Genome-wide survey of interindividual differences of RNA stability in human lymphoblastoid cell lines.

Duan J et al.

Scientific Reports, 2013

23422947 (PubMed )
Supplement: srep01318-s2.xls › S7

Mutational analysis of RUNX2 gene in Chinese patients with cleidocranial dysplasia.

Zhang C et al.

Mutagenesis, 2010

RUNX2 mutations in Chinese patients with cleidocranial dysplasia.

Li Y et al.

Mutagenesis, 2009

Promoter 2 -1025 T/C polymorphism in the RUNX2 gene is associated with femoral neck bmd in Spanish postmenopausal women.

Bustamante M et al.

Calcified Tissue International, 2007

Adams-Oliver syndrome: clinical description of a four-generation family and exclusion of five candidate genes.

Verdyck P et al.

Clinical Genetics, 2006

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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."