Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.D549_K556Fs
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SETD2

NM_014159.7:p.D549_K556Fs

Associated Papers

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

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.

van Rij MC et al.

American Journal of Medical Genetics. Part A, 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."