Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.F1323_N1327delFs
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MSH6

NM_000179.3:p.F1323_N1327delFs

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

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

Full-length transcript amplification and sequencing as universal method to test mRNA integrity and biallelic expression in mismatch repair genes.

Morak M et al.

European Journal of Human Genetics : Ejhg, 2019

Loss of MSH2 and MSH6 due to heterozygous germline defects in MSH3 and MSH6.

Morak M et al.

Familial Cancer, 2017

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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."