Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Q2081*
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CREBBP

NM_004380.3:p.Q2081*

Associated Papers

Menke-Hennekam Syndrome: A Literature Review and a New Case Report.

Sima A et al.

Children (basel, Switzerland), 2022

The novel and recurrent variants in exon 31 of CREBBP in Japanese patients with Menke-Hennekam syndrome.

Nishi E et al.

American Journal of Medical Genetics. Part A, 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."