Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.Q208*
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XPA

NM_000380.4:p.Q208*

Associated Papers

Predominant neurological phenotype in a Hungarian family with two novel mutations in the XPA gene-case series.

Zádori D et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2020

31478152 (PubMed )
Supplement: 10072_2019_4044_MOESM1_ESM.pdf

Use of Big Data to Estimate Prevalence of Defective DNA Repair Variants in the US Population.

Pugh J et al.

Jama Dermatology, 2019

Expansion of the genotypic and phenotypic spectrum of xeroderma pigmentosum in Chinese population.

Zhang J et al.

Photodermatology, Photoimmunology & Photomedicine, 2017

XPA: A key scaffold for human nucleotide excision repair.

Sugitani N et al.

Dna Repair, 2016

Severe phenotypes in two Tunisian families with novel XPA mutations: evidence for a correlation between mutation location and disease severity.

Messaoud O et al.

Archives of Dermatological Research, 2012

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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."