Varaico: Literature-Extracted Genetic Variants

Gene:UVSSA
Variant:p.C32R
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UVSSA

NM_020894.4:p.C32R

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

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

The UVSSA complex alleviates MYC-driven transcription stress.

Sato M et al.

The Journal of Cell Biology, 2021

Genome scale analysis of pathogenic variants targetable for single base editing.

Lavrov AV et al.

Bmc Medical Genomics, 2020

32948190 (PubMed )
Supplement: 12920_2020_735_MOESM1_ESM.xlsx › mutations

KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses.

Kim J et al.

Scientific Reports, 2018

GESPA: classifying nsSNPs to predict disease association.

Khurana JK et al.

Bmc Bioinformatics, 2015

26206375 (PubMed )
Supplement: 12859_2015_673_MOESM2_ESM.xls › Sheet1

UVSSA and USP7, a new couple in transcription-coupled DNA repair.

Schwertman P et al.

Chromosoma, 2013

UVSSA and USP7: new players regulating transcription-coupled nucleotide excision repair in human cells.

Sarasin A

Genome Medicine, 2012

Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.

Nakazawa Y et al.

Nature Genetics, 2012

Transcription-coupled nucleotide excision repair as a determinant of cisplatin sensitivity of human cells.

Furuta T et al.

Cancer Research, 2002

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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."