Publications:

Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.

Acta Neuropathologica Communications

Park, Hongsun H; Yamanaka, Tomoyuki T; Toyama, Yumiko Y; Fujita, Atsushi A; Doi, Hiroshi H; Nirasawa, Takashi T; Murayama, Shigeo S; Matsumoto, Naomichi N; Shimogori, Tomomi T; Ikegawa, Masaya M; Haltia, Matti J MJ; Nukina, Nobuyuki N

Publication Date: 2022-03-04

Variant appearance in text: MUC16: R12885R

PubMed Link: 35246273

Variant Present in the following documents:

• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 1
• 40478_2022_1333_MOESM3_ESM.xlsx, sheet 2

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Common Postzygotic Mutational Signatures in Healthy Adult Tissues Related to Embryonic Hypoxia.

Genomics, Proteomics & Bioinformatics

Hong, Yaqiang Y; Zhang, Dake D; Zhou, Xiangtian X; Chen, Aili A; Abliz, Amir A; Bai, Jian J; Wang, Liang L; Hu, Qingtao Q; Gong, Kenan K; Guan, Xiaonan X; Liu, Mengfei M; Zheng, Xinchang X; Lai, Shujuan S; Qu, Hongzhu H; Zhao, Fuxin F; Hao, Shuang S; Wu, Zhen Z; Cai, Hong H; Hu, Shaoyan S; Ma, Yue Y; Zhang, Junting J; Ke, Yang Y; Wang, Qian-Fei QF; Chen, Wei W; Zeng, Changqing C

Publication Date: 2022-02

Variant appearance in text: MUC16: Arg12885=

PubMed Link: 34624550

Variant Present in the following documents:

• main.pdf

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: MUC16: 38655G>A; R12885R

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: MUC16: R12885R

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

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Revisiting aneuploidy profile of surgically retrieved spermatozoa by whole exome sequencing molecular karyotype.

Plos One

Cheung, Stephanie S; Schlegel, Peter N PN; Rosenwaks, Zev Z; Palermo, Gianpiero D GD

Publication Date: 2019

Variant appearance in text: MUC16: 38655G>A

PubMed Link: 30608972

Variant Present in the following documents:

• pone.0210079.s007.xlsx, sheet 4
• pone.0210079.s007.xlsx, sheet 19

View BVdb publication page