Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.L2435L
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CREBBP

NM_004380.3:p.L2435L

Associated Papers

Recombinant human growth hormone treatment of Floating-Harbor syndrome: a case report and literature review.

He Q et al.

Bmc Pediatrics, 2025

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

Ismagilova OR et al.

Frontiers in Genetics, 2025

Floating-Harbor Syndrome Treated With Recombinant Human Growth Hormone: A Case Report and Literature Review.

Bo H et al.

Frontiers in Pediatrics, 2021

Novel genotypes and phenotypes among Chinese patients with Floating-Harbor syndrome.

Zhang S et al.

Orphanet Journal of Rare Diseases, 2019

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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."