Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.D549fs
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SETD2

NM_014159.7:p.D549fs

Associated Papers

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

Mitchell B et al.

Journal of Cell Science, 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

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

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."