Varaico: Literature-Extracted Genetic Variants

Gene:CREBBP
Variant:p.W1686*
Back to variants list

CREBBP

NM_004380.3:p.W1686*

Associated Papers

New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Pérez-Grijalba V et al.

Molecular Genetics & Genomic Medicine, 2019

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."