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Clinical Genetics|November 24, 2025
Functional Analysis and Clinical Data Reclassify the DICER1 c.4206+1G>C Variant, Leading to Exon 22 Skipping, as Likely PathogenicSebastian Walpole, Miren Itxaso Santiago-Vela, Ulf Birkedal, et al.
Clinical Genetics|January 10, 2025
A Novel Case of Biallelic MLH3 Variants in a Patient With Rectal Cancer and PolypsKatrine M Johannesen, John Gásdal Karstensen, Andreas Ørslev Rasmussen, et al.
Molecular Genetics & Genomic Medicine|July 11, 2023
The effect of a single SMARCA4 exon deletion on RNA splicing: Implications for variant classificationAnna Byrjalsen, Ulrik Stoltze, Mana Mehrjouy, et al.
Molecular Genetics & Genomic Medicine|November 15, 2024
Reclassification of Two MLH1 Variants of Uncertain Significance Utilizing Clinical and Functional DataJane Hübertz Frederiksen, Ulf Birkedal, Sarah Bachmann, et al.
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