Publications:

Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.

Plos One

Ueda, Atsushi A; Osawa, Motoki M; Naito, Haruaki H; Ochiai, Eriko E; Kakimoto, Yu Y

Publication Date: 2022

Variant appearance in text: ATM: 483G>A

PubMed Link: 35486589

Variant Present in the following documents:

• pone.0267751.s001.xls, sheet 1

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Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.

Scientific Reports

von Stedingk, Kristoffer K; Stjernfelt, Karl-Johan KJ; Kvist, Anders A; Wahlström, Cecilia C; Kristoffersson, Ulf U; Stenmark-Askmalm, Marie M; Wiebe, Thomas T; Hjorth, Lars L; Koster, Jan J; Olsson, Håkan H; Øra, Ingrid I

Publication Date: 2021-03-05

Variant appearance in text: ATM: 483G>A

PubMed Link: 33674644

Variant Present in the following documents:

• 41598_2021_84502_MOESM2_ESM.xlsx, sheet 10

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Identification of a structurally novel BTK mutation that drives ibrutinib resistance in CLL.

Oncotarget

Sharma, Shruti S; Galanina, Natalie N; Guo, Ailin A; Lee, Jimmy J; Kadri, Sabah S; Van Slambrouck, Charles C; Long, Bradley B; Wang, Weige W; Ming, Mei M; Furtado, Larissa V LV; Segal, Jeremy P JP; Stock, Wendy W; Venkataraman, Girish G; Tang, Wei-Jen WJ; Lu, Pin P; Wang, Yue Lynn YL

Publication Date: 2016-10-18

Variant appearance in text: ATM: 483G>A

PubMed Link: 27626698

Variant Present in the following documents:

• oncotarget-07-68833-s002.xlsx, sheet 1
• oncotarget-07-68833-s002.xlsx, sheet 3

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Mutation profiles of synchronous colorectal cancers from a patient with Lynch syndrome suggest distinct oncogenic pathways.

Journal Of Gastrointestinal Oncology

Wheeler, Scott R SR; Shi, Chanjuan C; Holt, Jonathan A JA; Vnencak-Jones, Cindy L CL

Publication Date: 2016-06

Variant appearance in text: ATM: 483G>A

PubMed Link: 27284491

Variant Present in the following documents:

• Main text

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