Varaico: Literature-Extracted Genetic Variants

Gene:EP300
Variant:p.Q149*
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EP300

NM_001429.4:p.Q149*

Associated Papers

Molecular genetic analysis of Rubinstein-Taybi syndrome in Russian patients.

Ismagilova OR et al.

Frontiers in Genetics, 2025

39958159 (PubMed )
Supplement: DataSheet1.pdf

Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.

Pinheiro M et al.

Nature Communications, 2024

39266536 (PubMed )
Supplement: 41467_2024_51713_MOESM5_ESM.xlsx › Data_2

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.

Chung IM et al.

Genes, 2016

Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening.

Cai J et al.

Human Genetics, 2003

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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."