Varaico: Literature-Extracted Genetic Variants

Gene:COPS8
Variant:p.A205P
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COPS8

NM_006710.5:p.A205P

Associated Papers

A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.

Kleppa L et al.

Neuroscience, 2007

The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.

Saijo M

Mechanisms of Ageing and Development, 0

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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."