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: K8865N; rs765507696

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Whole Genome Sequencing of a Vietnamese Family from a Dioxin Contamination Hotspot Reveals Novel Variants in the Son with Undiagnosed Intellectual Disability.

International Journal Of Environmental Research And Public Health

Nguyen, Dang Ton DT; Nguyen, Hai Ha HH; Nguyen, Thuy Duong TD; Nguyen, Thi Thanh Hoa TTH; Nakano, Kaoru K; Maejima, Kazuhiro K; Sasaki-Oku, Aya A; Nguyen, Van Ba VB; Nguyen, Duy Bac DB; Le, Bach Quang BQ; Wong, Jing Hao JH; Tsunoda, Tatsuhiko T; Nakagawa, Hidewaki H; Fujimoto, Akihiro A; Nong, Van Hai VH

Publication Date: 2018-11-23

Variant appearance in text: TTN: K8865N

PubMed Link: 30477169

Variant Present in the following documents:

• Main text
• ijerph-15-02629.pdf

View BVdb publication page