Varaico: Literature-Extracted Genetic Variants

Gene:UVSSA
Variant:p.W347*
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UVSSA

NM_020894.4:p.W347*

Associated Papers

UVSSA facilitates transcription-coupled repair of DNA interstrand crosslinks.

Liebau RC et al.

Dna Repair, 2024

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

Bahap Y et al.

Molecular Syndromology, 2024

Transcription-Coupled Repair of DNA Interstrand Crosslinks by UVSSA.

Liebau RC et al.

Biorxiv : the Preprint Server for Biology, 2024

A Homozygous Nonsense Variant in UVSSA Causes UV-sensitive Syndrome from Very Large Kindred: The First Report from Iran.

Ahmadi Shadmehri A et al.

Advanced Biomedical Research, 2023

UV-sensitive syndrome: Whole exome sequencing identified a nonsense mutation in the gene UVSSA in two consanguineous pedigrees from Pakistan.

Ijaz A et al.

Journal of Dermatological Science, 2019

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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."