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: LRP1: T1376N; rs767716691

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X

Publication Date: 2022

Variant appearance in text: LRP1: 4127C>A; T1376N

PubMed Link: 35874768

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

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Gout inheritance in an extended Chinese family analyzed by whole-exome sequencing: A case-report.

Medicine

Yang, Peiqing P; Pi, Xuenan X; Marion, Tony N TN; Wang, Jing J; Wang, Gang G; Xie, Yan Y; Xie, Dan D; Liu, Yi Y

Publication Date: 2020-06-19

Variant appearance in text: LRP1: T1376N; rs767716691

PubMed Link: 32569156

Variant Present in the following documents:

• Main text
• medi-99-e20057.pdf

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