Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.V47delFs
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APC

NM_000038.6:p.V47delFs

Associated Papers

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

Averdunk L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

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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."