Varaico: Literature-Extracted Genetic Variants

Gene:LIG4
Variant:p.I701V
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LIG4

NM_206937.2:p.I701V

Associated Papers

A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome.

O'Driscoll M et al.

Nature Genetics, 2003

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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."