Associated Papers
Rare heterozygous missense variants in VSX2 are associated with retinal detachment.
Brock DC et al.
Plos Genetics, 2026
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
41261115 (PubMed )
Supplement: 41467_2025_65164_MOESM6_ESM.xlsx › Figure_3C
Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.
Arniani S et al.
Leukemia, 2022
35974102 (PubMed )
Supplement: 41375_2022_1671_MOESM2_ESM.xlsx › Table_18
Whole exome sequencing in familial isolated primary hyperparathyroidism.
Cetani F et al.
Journal of Endocrinological Investigation, 2020
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