Varaico: Literature-Extracted Genetic Variants

Gene:SETBP1
Variant:p.A733_L735delFs
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SETBP1

NM_015559.3:p.A733_L735delFs

Associated Papers

Whole-genome sequencing combined RNA-sequencing analysis of patients with mutations in SET binding protein 1.

Liu L et al.

Frontiers in Neuroscience, 2022

36161179 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_S5

Identification of SETBP1 Mutations by Gene Panel Sequencing in Individuals With Intellectual Disability or With "Developmental and Epileptic Encephalopathy".

Leonardi E et al.

Frontiers in Neurology, 2020

Characterization of intellectual disability and autism comorbidity through gene panel sequencing.

Aspromonte MC et al.

Human Mutation, 2019

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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."