Associated Papers
Detection rates of multigene panel and exome testing in patients with previous negative BRCA1/2 results.
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Supplement: 439_2024_2691_MOESM2_ESM.xlsx › MSH2
Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden.
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Genes, 2021
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Exonic CLDN16 mutations associated with familial hypomagnesemia with hypercalciuria and nephrocalcinosis can induce deleterious mRNA alterations.
Perdomo-Ramirez A et al.
Bmc Medical Genetics, 2019
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