Varaico: Literature-Extracted Genetic Variants

Gene:XPA
Variant:p.G58Splc
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XPA

NM_000380.4:p.G58Splc

Associated Papers

Background splicing as a predictor of aberrant splicing in genetic disease.

Alexieva D et al.

Rna Biology, 2022

35188075 (PubMed )
Supplement: KRNB_A_2024031_SM7960.zip › Supplementary_information › Table_S2_css.xlsx › Table_S2_DBASS5_index

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

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

Compensatory signals associated with the activation of human GC 5' splice sites.

Kralovicova J et al.

Nucleic Acids Research, 2011

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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."