Varaico: Literature-Extracted Genetic Variants

Gene:WRN
Variant:p.G1047fs
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WRN

NM_000553.6:p.G1047fs

Associated Papers

Targeted long-read sequencing identifies missing pathogenic variants in unsolved Werner syndrome cases.

Miller DE et al.

Journal of Medical Genetics, 2022

Werner syndrome through the lens of tissue and tumour genomics.

Tokita M et al.

Scientific Reports, 2016

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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."