Varaico: Literature-Extracted Genetic Variants

Gene:WWOX
Variant:p.S250*
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WWOX

NM_016373.4:p.S250*

Associated Papers

Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.

Wang Z et al.

Genome Medicine, 2021

34503567 (PubMed )
Supplement: 13073_2021_964_MOESM6_ESM.xlsx › Sheet1

WWOX-related encephalopathies: delineation of the phenotypical spectrum and emerging genotype-phenotype correlation.

Mignot C et al.

Journal of Medical Genetics, 2015

WWOX at the crossroads of cancer, metabolic syndrome related traits and CNS pathologies.

Aldaz CM et al.

Biochimica Et Biophysica Acta, 2014

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration.

Abdel-Salam G et al.

Orphanet Journal of Rare Diseases, 2014

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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."