Associated Papers
Phenotypes of carriers of two mutated alleles in major cancer susceptibility genes.
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Breast Cancer Research and Treatment, 2024
Phase separation as a possible mechanism for dosage sensitivity.
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38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD-escaping_mutations
Double heterozygotes of BRCA1/BRCA2 and mismatch repair gene pathogenic variants: case series and clinical implications.
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Breast Cancer Research and Treatment, 2021
An isolated childhood myeloid sarcoma with germline MSH6 mutation-a case report.
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Translational Pediatrics, 2021
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