Publications:

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.

European Journal Of Neurology

Krenn, M M; Tomschik, M M; Rath, J J; Cetin, H H; Grisold, A A; Zulehner, G G; Milenkovic, I I; Stogmann, E E; Zimprich, A A; Strom, T M TM; Meitinger, T T; Wagner, M M; Zimprich, F F

Publication Date: 2020-01

Variant appearance in text: LGMD2J: 1119A>T

PubMed Link: 31407473

Variant Present in the following documents:

• Main text

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Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.

Journal Of Medical Genetics

Peng, Muyun M; Xie, Yuancai Y; Li, Xiaohua X; Qian, Youhui Y; Tu, Xiaonian X; Yao, Xumei X; Cheng, Fangsheng F; Xu, Feiyue F; Kong, Deju D; He, Bing B; Liu, Chaoyu C; Cao, Fengjun F; Yang, Haoxian H; Yu, Fenglei F; Xu, Chuanbo C; Tian, Geng G

Publication Date: 2019-10

Variant appearance in text: TTN: Glu373Asp

PubMed Link: 30981987

Variant Present in the following documents:

• jmedgenet-2018-105825supp002.xlsx, sheet 4

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