Publications:

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: RYR1: D709Y

PubMed Link: 27612425

Variant Present in the following documents:

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

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Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility.

Molecular Genetics & Genomic Medicine

Sambuughin, Nyamkhishig N; Zvaritch, Elena E; Kraeva, Natasha N; Sizova, Olga O; Sivak, Erica E; Dickson, Kelley K; Weglinski, Margaret M; Capacchione, John J; Muldoon, Sheila S; Riazi, Sheila S; Hamilton, Susan S; Brandom, Barbara B; MacLennan, David H DH

Publication Date: 2014-11

Variant appearance in text: RYR1: 2125G>T

PubMed Link: 25614869

Variant Present in the following documents:

• Main text
• mgg30002-0472.pdf

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