Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.C1707Y
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CREBBP

NM_004380.3:p.C1707Y

Associated Papers

Identification of de-novo CREBBP gene variants in patients with Rubinstein-Taybi syndrome.

Ji Q et al.

Psychiatric Genetics, 2025

[A case of Menke-Hennekam syndrome-1 caused by CREBBP gene variation].

Luo GJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."