Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.R1740Q
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SETD2

NM_014159.7:p.R1740Q

Associated Papers

Genomic Profiling of Pediatric Solid Tumors With a Dual DNA/RNA Panel: JCCG-TOP2 Study.

Tao K et al.

Cancer Science, 2026

41249692 (PubMed )
Supplement: CAS-117-522-s002.xlsx › Table_S4

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

Ünsel-Bolat G et al.

Developmental Neurobiology, 2026

A Previously Unreported Bilateral Condylar Hyperplasia as a Manifestation of Luscan-Lumish Syndrome.

Orozco-Fernández M et al.

The Journal of Craniofacial Surgery, 2025

Epigenotype-genotype-phenotype correlations in SETD1A and SETD2 chromatin disorders.

Lee S et al.

Human Molecular Genetics, 2023

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

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8

Genotype-phenotype correlation at codon 1740 of SETD2.

Rabin R et al.

American Journal of Medical Genetics. Part A, 2020

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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."