Varaico: Literature-Extracted Genetic Variants

Gene:SETD2
Variant:p.R1459*
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SETD2

NM_014159.7:p.R1459*

Associated Papers

Unique mutations in mitochondrial DNA and associated pathways involved in high altitude pulmonary edema susceptibility in Indian lowlanders.

Sharma S et al.

Journal of Biomolecular Structure & Dynamics, 2023

Monomorphic epitheliotropic intestinal T-cell lymphoma comprises morphologic and genomic heterogeneity impacting outcome.

Veloza L et al.

Haematologica, 2023

35708139 (PubMed )
Supplement: 2022_281226_VELOZA_SUPPL.pdf

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

37025455 (PubMed )
Supplement: Table1.XLSX › tableS1

Risk prediction for metastasis of clear cell renal cell carcinoma using digital multiplex ligation-dependent probe amplification.

Yoshikawa Y et al.

Cancer Science, 2022

34687579 (PubMed )
Supplement: CAS-113-297-s001.xlsx › Table_S3

Exome sequencing improves genetic diagnosis of fetal increased nuchal translucency.

Yang X et al.

Prenatal Diagnosis, 2020

Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.

Roberti A et al.

Nature Communications, 2016

[Rapid genetic prenatal diagnosis for achondroplasia].

Zhu HY et al.

Zhonghua Fu Chan Ke Za Zhi, 2008

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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."