Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.V230_R231insFs
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XPA

NM_000380.4:p.V230_R231insFs

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

XPA: A key scaffold for human nucleotide excision repair.

Sugitani N et al.

Dna Repair, 2016

A Distinct Genotype of XP Complementation Group A: Surprisingly Mild Phenotype Highly Prevalent in Northern India/Pakistan/Afghanistan.

Sethi M et al.

The Journal of Investigative Dermatology, 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

XPA gene mutations resulting in subtle truncation of protein in xeroderma pigmentosum group A patients with mild skin symptoms.

Takahashi Y et al.

The Journal of Investigative Dermatology, 2010

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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."