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: CP: G289A; rs1433947955

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Variability in eukaryotic initiation factor iso4E in Brassica rapa influences interactions with the viral protein linked to the genome of Turnip mosaic virus.

Scientific Reports

Li, Guoliang G; Qian, Wei W; Zhang, Shujiang S; Zhang, Shifan S; Li, Fei F; Zhang, Hui H; Fang, Zhiyuan Z; Wu, Jian J; Wang, Xiaowu X; Sun, Rifei R

Publication Date: 2018-09-11

Variant appearance in text: CP: G289A

PubMed Link: 30206242

Variant Present in the following documents:

• 41598_2018_Article_31739.pdf

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Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.

Jimd Reports

Sun, Jun J; McGillivray, Angela J AJ; Pinner, Jason J; Yan, Zhihui Z; Liu, Fengxia F; Bratkovic, Drago D; Thompson, Elizabeth E; Wei, Xiuxiu X; Jiang, Huifeng H; Asan, ; Chopra, Maya M

Publication Date: 2017

Variant appearance in text: CP: 866G>C; G289A

PubMed Link: 27469131

Variant Present in the following documents:

• Main text

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