Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.D1481G
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CREBBP

NM_004380.3:p.D1481G

Associated Papers

Rubinstein-Taybi syndrome with ganglioneuroblastoma: a case report and literature review.

Zhou J et al.

Bmc Pediatrics, 2025

A study on genotypes and phenotypes of short stature caused by epigenetic modification gene variants.

Shangguan H et al.

European Journal of Pediatrics, 2024

Near-Haploid B-Cell Acute Lymphoblastic Leukemia in a Patient with Rubinstein-Taybi Syndrome.

Kurtz KJ et al.

Pediatric Hematology and Oncology, 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."