Varaico: Literature-Extracted Genetic Variants

Gene:HP
Variant:p.V390fs
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HP

NM_005143.5:p.V390fs

Associated Papers

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations.

Fergelot P et al.

American Journal of Medical Genetics. Part A, 2016

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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."