Varaico: Literature-Extracted Genetic Variants

Gene:SET
Variant:p.D43_R44delFs
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SET

NM_003011.4:p.D43_R44delFs

Associated Papers

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

SET de novo frameshift variants associated with developmental delay and intellectual disabilities.

Richardson R et al.

European Journal of Human Genetics : Ejhg, 2018

De novo mutations in the SET nuclear proto-oncogene, encoding a component of the inhibitor of histone acetyltransferases (INHAT) complex in patients with nonsyndromic intellectual disability.

Stevens SJC et al.

Human Mutation, 2018

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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."