Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.Q1901*
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CREBBP

NM_004380.3:p.Q1901*

Associated Papers

Genotype-phenotype analysis of ocular findings in Rubinstein-Taybi syndrome - A case report and review of literature.

Jin E et al.

Ophthalmic Genetics, 2024

Divergent variant patterns among 19 patients with Rubinstein-Taybi syndrome uncovered by comprehensive genetic analysis including whole genome sequencing.

Enomoto Y et al.

Clinical Genetics, 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."