Varaico: Literature-Extracted Genetic Variants

Gene:SET
Variant:p.L230insFs
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SET

NM_001122821.2:p.L230insFs

Associated Papers

Whole exome sequencing and transcriptome analysis in two unrelated patients with novel SET mutations.

Pan X et al.

Journal of Human Genetics, 2023

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."