Publications:

Genetic Modifiers of Hereditary Neuromuscular Disorders and Cardiomyopathy.

Cells

Bazrafshan, Sholeh S; Kushlaf, Hani H; Kakroo, Mashhood M; Quinlan, John J; Becker, Richard C RC; Sadayappan, Sakthivel S

Publication Date: 2021-02-08

Variant appearance in text: TTN: 44832C>G

PubMed Link: 33567613

Variant Present in the following documents:

• Main text
• cells-10-00349.pdf

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Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.

Plos One

Sanchez, Olallo O; Campuzano, Oscar O; Fernández-Falgueras, Anna A; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Mademont, Irene I; Mates, Jesus J; Pérez-Serra, Alexandra A; Coll, Monica M; Pico, Ferran F; Iglesias, Anna A; Tirón, Coloma C; Allegue, Catarina C; Carro, Esther E; Gallego, María Ángeles MÁ; Ferrer-Costa, Carles C; Hospital, Anna A; Bardalet, Narcís N; Borondo, Juan Carlos JC; Vingut, Albert A; Arbelo, Elena E; Brugada, Josep J; Castellà, Josep J; Medallo, Jordi J; Brugada, Ramon R

Publication Date: 2016

Variant appearance in text: TTN: 44832C>G

PubMed Link: 27930701

Variant Present in the following documents:

• Main text
• pone.0167358.pdf

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: TTN: F14944L

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: TTN: F14944L

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-6.xlsx, sheet 1

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