Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.K1426*
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SETD2

NM_014159.7:p.K1426*

Associated Papers

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

Clinical and genetic features of luscan-lumish syndrome associated with a novel de novo variant of SETD2 gene: Case report and literature review.

Zhang Y et al.

Frontiers in Genetics, 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

Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders.

Levy MA et al.

Hgg Advances, 2022

35047860 (PubMed )
Supplement: mmc2.xlsx › Table_S1_samples

SETD2 related overgrowth syndrome: Presentation of four new patients and review of the literature.

Marzin P et al.

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 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."