Publications:

Telomere shortening is a hallmark of genetic cardiomyopathies.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Chang, Alex C Y ACY; Chang, Andrew C H ACH; Kirillova, Anna A; Sasagawa, Koki K; Su, Willis W; Weber, Gerhard G; Lin, Jue J; Termglinchan, Vittavat V; Karakikes, Ioannis I; Seeger, Timon T; Dainis, Alexandra M AM; Hinson, John T JT; Seidman, Jonathan J; Seidman, Christine E CE; Day, John W JW; Ashley, Euan E; Wu, Joseph C JC; Blau, Helen M HM

Publication Date: 2018-09-11

Variant appearance in text: NOTCH1: G152A

PubMed Link: 30150400

Variant Present in the following documents:

• pnas.201714538.pdf

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Germline mutations in candidate predisposition genes in individuals with cutaneous melanoma and at least two independent additional primary cancers.

Plos One

Pritchard, Antonia L AL; Johansson, Peter A PA; Nathan, Vaishnavi V; Howlie, Madeleine M; Symmons, Judith J; Palmer, Jane M JM; Hayward, Nicholas K NK

Publication Date: 2018

Variant appearance in text: NOTCH1: 455G>C

PubMed Link: 29641532

Variant Present in the following documents:

• pone.0194098.s003.xlsx, sheet 5

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