Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R497*
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MSH6

NM_000179.3:p.R497*

Associated Papers

Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.

Stundon JL et al.

Neuro-oncology, 2023

Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

MacFarland SP et al.

Jco Precision Oncology, 2019

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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."