Associated Papers
Saturation genome editing of BAP1 functionally classifies somatic and germline variants.
Waters AJ et al.
Nature Genetics, 2024
38969833 (PubMed )
Supplement: 41588_2024_1799_MOESM19_ESM.xlsx › extended_data_fig_7_b
GOLM1: expanding our understanding of melanoma susceptibility.
Maas EJ et al.
Journal of Medical Genetics, 2023
Whole Exome Sequencing Identifies TSC1/TSC2 Biallelic Loss as the Primary and Sufficient Driver Event for Renal Angiomyolipoma Development.
Giannikou K et al.
Plos Genetics, 2016
POT1 loss-of-function variants predispose to familial melanoma.
Robles-Espinoza CD et al.
Nature Genetics, 2014
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