Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.G594_D595Splc
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SETD5

NM_001080517.3:p.G594_D595Splc

Associated Papers

Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.

Wei J et al.

Plos Biology, 2024

38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar

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: Table1.XLSX › Sheet1

Genetic variations on SETD5 underlying autistic conditions.

Fernandes IR et al.

Developmental Neurobiology, 2018

Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance.

Powis Z et al.

Clinical Genetics, 2018

Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.

Rossi M et al.

Pediatric Neurology, 2017

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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."