Varaico: Literature-Extracted Genetic Variants

Gene:RUNX2
Variant:p.Y400_T401insFs
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RUNX2

NM_001024630.4:p.Y400_T401insFs

Associated Papers

The impact of RUNX2 gene variants on cleidocranial dysplasia phenotype: a systematic review.

Thaweesapphithak S et al.

Journal of Translational Medicine, 2024

39627759 (PubMed )
Supplement: 12967_2024_5904_MOESM1_ESM.xlsx › Supplement_table_1.

Functional analysis of novel RUNX2 mutations in cleidocranial dysplasia.

Zeng L et al.

Mutagenesis, 2017

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