Varaico: Literature-Extracted Genetic Variants

Gene:XPC
Variant:p.V548A
Back to variants list

XPC

NM_004628.5:p.V548A

Associated Papers

Juvenile Granulosa Cell Tumor in an Adolescent With Xeroderma Pigmentosum: A Rare Case and Implications for Surveillance.

Erraoui I et al.

Cureus, 2025

Identification of novel mutations and reassignment of archival xeroderma pigmentosum group C cell strains from Japanese patients.

Kobayashi H et al.

The Journal of Dermatology, 2023

Mutagenicity Profile Induced by UVB Light in Human Xeroderma Pigmentosum Group C Cells.

Quintero-Ruiz N et al.

Photochemistry and Photobiology, 2022

Xeroderma Pigmentosum Complementation Group C (XPC): Emerging Roles in Non-Dermatologic Malignancies.

Nasrallah NA et al.

Frontiers in Oncology, 2022

A novel frameshift mutation in the XPC gene in a Moroccan patient: a case report.

Doubaj Y et al.

Journal of Medical Case Reports, 2017

Diagnosis of Xeroderma Pigmentosum Groups A and C by Detection of Two Prevalent Mutations in West Algerian Population: A Rapid Genotyping Tool for the Frequent XPC Mutation c.1643_1644delTG.

Bensenouci S et al.

Biomed Research International, 2016

c.1643_1644delTG XPC mutation is more frequent in Moroccan patients with xeroderma pigmentosum.

Senhaji MA et al.

Archives of Dermatological Research, 2013

The experience of a Tunisian referral centre in prenatal diagnosis of Xeroderma pigmentosum.

Messaoud O et al.

Public Health Genomics, 2013

Carrier frequency of the recurrent mutation c.1643_1644delTG in the XPC gene and birth prevalence of the xeroderma pigmentosum in Morocco.

Doubaj Y et al.

The Journal of Dermatology, 2012

A novel POLH gene mutation in a xeroderma pigmentosum-V Tunisian patient: phenotype-genotype correlation.

Ben Rekaya M et al.

Journal of Genetics, 2011

High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.

Ben Rekaya M et al.

Journal of Human Genetics, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."