Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.E1718K
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SETD2

NM_014159.7:p.E1718K

Associated Papers

Clinical Insights Into a Rare SETD2 Disorder: Report of a Novel Variant.

Ünsel-Bolat G et al.

Developmental Neurobiology, 2026

Cellular and molecular functions of SETD2 in the central nervous system.

Mitchell B et al.

Journal of Cell Science, 2023

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature.

Parra A et al.

Genes, 2023

A novel SETD2 variant causing global development delay without overgrowth in a Chinese 3-year-old boy.

Wu Y et al.

Frontiers in Genetics, 2023

A semiautomated whole-exome sequencing workflow leads to increased diagnostic yield and identification of novel candidate variants.

Ji J et al.

Cold Spring Harbor Molecular Case Studies, 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."