Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.R1318fs
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MSH6

NM_000179.3:p.R1318fs

Associated Papers

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations

An isolated childhood myeloid sarcoma with germline MSH6 mutation-a case report.

Liu Y et al.

Translational Pediatrics, 2021

One in three highly selected Greek patients with breast cancer carries a loss-of-function variant in a cancer susceptibility gene.

Fostira F et al.

Journal of Medical Genetics, 2020

31300551 (PubMed )
Supplement: jmedgenet-2019-106189supp005.pdf

Detection of Mismatch Repair Deficiency and Microsatellite Instability in Colorectal Adenocarcinoma by Targeted Next-Generation Sequencing.

Nowak JA et al.

The Journal of Molecular Diagnostics : Jmd, 2017

Mutations in epigenetic regulators including SETD2 are gained during relapse in paediatric acute lymphoblastic leukaemia.

Mar BG et al.

Nature Communications, 2014

24662245 (PubMed )
Supplement: NIHMS568254-supplement-1.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."