Varaico: Literature-Extracted Genetic Variants

Gene:MSH6
Variant:p.H1096Y
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MSH6

NM_000179.3:p.H1096Y

Associated Papers

Classification of MSH6 Variants of Uncertain Significance Using Functional Assays.

Frederiksen JH et al.

International Journal of Molecular Sciences, 2021

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Thompson BA et al.

Frontiers in Genetics, 2020

32849802 (PubMed )
Supplement: Data_Sheet_1.xlsx › Supplementary_Table_3

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

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