Varaico: Literature-Extracted Genetic Variants

Gene:XRCC1
Variant:p.P206L
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XRCC1

NM_006297.3:p.P206L

Associated Papers

Mechanism of APTX nicked DNA sensing and pleiotropic inactivation in neurodegenerative disease.

Tumbale P et al.

The Embo Journal, 2018

Multi-omics analysis defines core genomic alterations in pheochromocytomas and paragangliomas.

Castro-Vega LJ et al.

Nature Communications, 2015

25625332 (PubMed )
Supplement: ncomms7044-s3.xlsx › Supplementary_Data_2

Ataxia with oculomotor apraxia type1 (AOA1): novel and recurrent aprataxin mutations, coenzyme Q10 analyses, and clinical findings in Italian patients.

Castellotti B et al.

Neurogenetics, 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."