Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.M214insFs
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XPA

NM_000380.4:p.M214insFs

Associated Papers

Case report: Xeroderma pigmentosum Group A with erythropoietic protoporphyria in a young Chinese patient.

Wu SH et al.

Frontiers in Endocrinology, 2024

Neurological disease in xeroderma pigmentosum: prospective cohort study of its features and progression.

Garcia-Moreno H et al.

Brain : a Journal of Neurology, 2023

38040034 (PubMed )
Supplement: awad266_supplementary_data.pdf

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

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

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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."