Varaico: Literature-Extracted Genetic Variants

Gene:CTR9
Variant:p.Q319_E320Splc
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CTR9

NM_014633.5:p.Q319_E320Splc

Associated Papers

Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

Alba-Pavón P et al.

Cancers, 2022

Recent advances in Wilms' tumor predisposition.

Maciaszek JL et al.

Human Molecular Genetics, 2020

Identification of a novel CTR9 germline mutation in a family with Wilms tumor.

Martins AG et al.

European Journal of Medical Genetics, 2018

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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."