Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.R783fs
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SETD5

NM_001080517.3:p.R783fs

Associated Papers

High Performance of a Dominant/X-Linked Gene Panel in Patients with Neurodevelopmental Disorders.

Spataro N et al.

Genes, 2023

36980980 (PubMed )
Supplement: genes-14-00708-s001.zip › TableS4.xls › Sheet1

Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes.

Nakagawa T et al.

Frontiers in Genetics, 2022

36685966 (PubMed )
Supplement: Image1.PDF

Genetic variations on SETD5 underlying autistic conditions.

Fernandes IR et al.

Developmental Neurobiology, 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."