Varaico: Literature-Extracted Genetic Variants

Gene:XRCC6
Variant:p.K424fs
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XRCC6

NM_001469.5:p.K424fs

Associated Papers

Ligase IV syndrome.

Chistiakov DA

Advances in Experimental Medicine and Biology, 2010

Severe combined immunodeficiency and microcephaly in siblings with hypomorphic mutations in DNA ligase IV.

Buck D et al.

European Journal of Immunology, 2006

Ligase IV syndrome.

Chistiakov DA et al.

European Journal of Medical Genetics, 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."