Associated Papers
Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
Schmidt A et al.
Nature Genetics, 2024
39039281 (PubMed )
Supplement: 41588_2024_1836_MOESM4_ESM.xlsx › S1
Analysis of Genetic Alterations in Ocular Adnexal Mucosa-Associated Lymphoid Tissue Lymphoma With Whole-Exome Sequencing.
Zhao A et al.
Frontiers in Oncology, 2022
35359413 (PubMed )
Supplement: Table_2.xlsx › DataS1
Mis-splicing in breast cancer: identification of pathogenic BRCA2 variants by systematic minigene assays.
Fraile-Bethencourt E et al.
The Journal of Pathology, 2019
Coding-region alterations in BTK do not universally cause X-linked agammaglobulinemia.
Abbott JK et al.
The Journal of Allergy and Clinical Immunology, 2013
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