Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: TTN: L3025V; rs142410663

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: 9073C>G; Leu3025Val

PubMed Link: 30981987

Variant Present in the following documents:

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

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Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome that Expands the Phenotypic Spectrum of Condensinopathies.

American Journal Of Human Genetics

Khan, Tahir N TN; Khan, Kamal K; Sadeghpour, Azita A; Reynolds, Hannah H; Perilla, Yezmin Y; McDonald, Marie T MT; Gallentine, William B WB; Baig, Shahid M SM; , ; Davis, Erica E EE; Katsanis, Nicholas N

Publication Date: 2019-01-03

Variant appearance in text: TTN: 9073C>G; Leu3025Val

PubMed Link: 30609410

Variant Present in the following documents:

• Main text

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