Publications:

An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: GRIN2A: 1895C>T; S632F

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 2
• Table_2.xlsx, sheet 3

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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: GRIN2A: S632F; rs1057520116

PubMed Link: 36413997

Variant Present in the following documents:

• mmc2.xlsx, sheet 1

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Diagnostic yield of genetic testing in 324 infants with hypotonia.

Clinical Genetics

Sharma, Sonal S; Repnikova, Elena E; Noel-MacDonnell, Janelle R JR; LePichon, Jean-Baptiste JB

Publication Date: 2021-12

Variant appearance in text: GRIN2A: 1895C>T; S632F

PubMed Link: 34480364

Variant Present in the following documents:

• Main text

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A single GluN2 subunit residue controls NMDA receptor channel properties via intersubunit interaction.

Nature Neuroscience

Siegler Retchless, Beth B; Gao, Wei W; Johnson, Jon W JW

Publication Date: 2012-01-15

Variant appearance in text: GluN2A: S632F

PubMed Link: 22246434

Variant Present in the following documents:

• NIHMS344266-supplement-1.pdf

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