Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.L1499L
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CREBBP

NM_004380.3:p.L1499L

Associated Papers

Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP.

Bartsch O et al.

Journal of Medical Genetics, 2002

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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."