Varaico: Literature-Extracted Genetic Variants

Gene:SOX4
Variant:p.A316V
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SOX4

NM_003107.3:p.A316V

Associated Papers

Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy.

Yu K et al.

Blood Advances, 2024

38019014 (PubMed )
Supplement: BLOODA_ADV-2023-011165-mmc2.xlsx › Figure_S9A

Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.

Dąbrowska J et al.

Journal of Clinical Medicine, 2023

36902838 (PubMed )
Supplement: jcm-12-02051-s001.zip › Supplementary_Tables_1-4.xlsx › ST4

Consolidation of the clinical and genetic definition of a SOX4-related neurodevelopmental syndrome.

Angelozzi M et al.

Journal of Medical Genetics, 2022

A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Chen YC et al.

Plos Computational Biology, 2014

25188385 (PubMed )
Supplement: pcbi.1003825.s014.xlsx › TableS12

The SRY-HMG box gene, SOX4, is a target of gene amplification at chromosome 6p in lung cancer.

Medina PP et al.

Human Molecular Genetics, 2009

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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."