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Von Hippel-Lindau Disease
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An optimized protocol for evaluating pathogenicity of VHL germline variants in patients suspected with von Hippel-Lindau syndrome: Using somatic genome to inform the role of germline variants
2022 Jun 18;[EPub Ahead of Print], DR Koeller, DK Manning, A Schwartz, A Chittenden, CP Hayes, F Abraamyan, HQ Rana, NI Lindeman, JE Garber, AA Ghazani