Varaico: Literature-Extracted Genetic Variants

Gene:UVSSA
Variant:p.R19*
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UVSSA

NM_020894.4:p.R19*

Associated Papers

A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause?

Bahap Y et al.

Molecular Syndromology, 2024

NTHL1 is a recessive cancer susceptibility gene.

Nurmi AK et al.

Scientific Reports, 2023

38036545 (PubMed )
Supplement: 41598_2023_47441_MOESM1_ESM.pdf

Genomic signatures reveal DNA damage response deficiency in colorectal cancer brain metastases.

Sun J et al.

Nature Communications, 2019

31320627 (PubMed )
Supplement: 41467_2019_10987_MOESM6_ESM.xlsx › Sheet1
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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."