Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.A78del1
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RUNX2

NM_001024630.4:p.A78del1

Associated Papers

Reassessing the association: Evaluation of a polyalanine deletion variant of RUNX2 in non-syndromic sagittal and metopic craniosynostosis.

Walton IS et al.

Journal of Anatomy, 2024

38760592 (PubMed )
Supplement: JOA-245-874-s001.zip › joa14052-sup-0001-Supinfo › joa14052-sup-0002-Supinfo.xlsx › Sheet1

Evolutionary history of adenomas to colorectal cancer in FAP families.

Yang C et al.

Frontiers in Genetics, 2024

39021676 (PubMed )
Supplement: DataSheet1.ZIP › Somatic › 19R03641.xls › SNVIndel

Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Zhang W et al.

Orphanet Journal of Rare Diseases, 2022

35668470 (PubMed )
Supplement: 13023_2022_2349_MOESM5_ESM.xlsx › ________

Identification of potential modifier genes in Chinese patients with Wilson disease.

Zhou D et al.

Metallomics : Integrated Biometal Science, 2022

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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."