Publications:

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Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology

Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ

Publication Date: 2022-10-11

Variant appearance in text: TERT: 2152G>A; D718N

PubMed Link: 36219477

Variant Present in the following documents:

• PATH-259-56-s004.xlsx, sheet 2

View BVdb publication page

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The spectrum of paroxysmal nocturnal hemoglobinuria clinical presentation in a Brazilian single referral center.

Annals Of Hematology

Pires da Silva, Bruno G P BGP; Fonseca, Natasha P NP; Catto, Luis Fernando B LFB; Pereira, Gabriel C GC; Calado, Rodrigo T RT

Publication Date: 2022-05

Variant appearance in text: TERT: D718N

PubMed Link: 35182190

Variant Present in the following documents:

• Main text
• 277_2022_Article_4797.pdf

View BVdb publication page

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High-throughput STELA provides a rapid test for the diagnosis of telomere biology disorders.

Human Genetics

Norris, Kevin K; Walne, Amanda J AJ; Ponsford, Mark J MJ; Cleal, Kez K; Grimstead, Julia W JW; Ellison, Alicia A; Alnajar, Jenna J; Dokal, Inderjeet I; Vulliamy, Tom T; Baird, Duncan M DM

Publication Date: 2021-06

Variant appearance in text: TERT: 2152G>A; Asp718Asn

PubMed Link: 33709208

Variant Present in the following documents:

• 439_2021_2257_MOESM1_ESM.pdf

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: TERT: D718N

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Structural, functional, and stability change predictions in human telomerase upon specific point mutations.

Scientific Reports

Kalathiya, U U; Padariya, M M; Baginski, M M

Publication Date: 2019-06-18

Variant appearance in text: TERT: D718N

PubMed Link: 31213647

Variant Present in the following documents:

• 41598_2019_45206_MOESM1_ESM.pdf

View BVdb publication page

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Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Plos One

Vulliamy, Tom J TJ; Kirwan, Michael J MJ; Beswick, Richard R; Hossain, Upal U; Baqai, Charlotte C; Ratcliffe, Anna A; Marsh, Judith J; Walne, Amanda A; Dokal, Inderjeet I

Publication Date: 2011

Variant appearance in text: TERT: Asp718Asn

PubMed Link: 21931702

Variant Present in the following documents:

• Main text
• pone.0024383.pdf

View BVdb publication page

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