Publications:

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Frontiers In Oncology

Li, Yuping Y; Xie, Yupeng Y; Wang, Di D; Xu, Hanyan H; Ye, Junru J; Yin, Jiani C JC; Chen, Junjie J; Yan, Junrong J; Ye, Bin B; Chen, Chengshui C

Publication Date: 2022

Variant appearance in text: HR: 284A>C

PubMed Link: 36387164

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

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Risk-adapted therapy and biological heterogeneity in pineoblastoma: integrated clinico-pathological analysis from the prospective, multi-center SJMB03 and SJYC07 trials.

Acta Neuropathologica

Liu, Anthony P Y APY; Gudenas, Brian B; Lin, Tong T; Orr, Brent A BA; Klimo, Paul P; Kumar, Rahul R; Bouffet, Eric E; Gururangan, Sridharan S; Crawford, John R JR; Kellie, Stewart J SJ; Chintagumpala, Murali M; Fisher, Michael J MJ; Bowers, Daniel C DC; Hassall, Tim T; Indelicato, Daniel J DJ; Onar-Thomas, Arzu A; Ellison, David W DW; Boop, Frederick A FA; Merchant, Thomas E TE; Robinson, Giles W GW; Northcott, Paul A PA; Gajjar, Amar A

Publication Date: 2020-02

Variant appearance in text: HR: E95A

PubMed Link: 31802236

Variant Present in the following documents:

• Main text

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A new mechanism of allostery in a G protein-coupled receptor dimer.

Nature Chemical Biology

Lane, J Robert JR; Donthamsetti, Prashant P; Shonberg, Jeremy J; Draper-Joyce, Christopher J CJ; Dentry, Samuel S; Michino, Mayako M; Shi, Lei L; López, Laura L; Scammells, Peter J PJ; Capuano, Ben B; Sexton, Patrick M PM; Javitch, Jonathan A JA; Christopoulos, Arthur A

Publication Date: 2014-09

Variant appearance in text: HR: E95A

PubMed Link: 25108820

Variant Present in the following documents:

• nihms609230.pdf

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