Varaico: Literature-Extracted Genetic Variants

Gene:EXT2
Variant:p.M1insFs
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EXT2

NM_207122.2:p.M1insFs

Associated Papers

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

Alba-Pavón P et al.

Cancers, 2022

Frequent inactivating germline mutations in DNA repair genes in patients with Ewing sarcoma.

Brohl AS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

28125078 (PubMed )
Supplement: NIHMS837744-supplement-Supplementary__Figure_and_Tables.pdf
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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."