Varaico: Literature-Extracted Genetic Variants

Gene:GINS3
Variant:p.Q177delFs
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GINS3

NM_022770.4:p.Q177delFs

Associated Papers

Mutations in C16orf57 and normal-length telomeres unify a subset of patients with dyskeratosis congenita, poikiloderma with neutropenia and Rothmund-Thomson syndrome.

Walne AJ et al.

Human Molecular Genetics, 2010

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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."