Publications:

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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: APP: L364F; rs749453173

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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AmazonForest: In Silico Metaprediction of Pathogenic Variants.

Biology

Palheta, Helber Gonzales Almeida HGA; Gonçalves, Wanderson Gonçalves WG; Brito, Leonardo Miranda LM; Dos Santos, Arthur Ribeiro AR; Dos Reis Matsumoto, Marlon M; Ribeiro-Dos-Santos, Ândrea Â; de Araújo, Gilderlanio Santana GS

Publication Date: 2022-03-31

Variant appearance in text: APP: Leu364Phe; rs749453173

PubMed Link: 35453737

Variant Present in the following documents:

• biology-11-00538.pdf

View BVdb publication page

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Peritoneal Metastasis After Treated With Abemaciclib Plus Fulvestrant for Metastatic Invasive Lobular Breast Cancer: A Case Report and Review of the Literature.

Frontiers In Endocrinology

Gao, Hong-Fei HF; Zhang, Jun-Sheng JS; Zhang, Qiang-Zu QZ; Zhu, Teng T; Yang, Ci-Qiu CQ; Zhang, Liu-Lu LL; Yang, Mei M; Ji, Fei F; Li, Jie-Qing JQ; Cheng, Min-Yi MY; Niu, Gang G; Wang, Kun K

Publication Date: 2021

Variant appearance in text: APP: 1090C>T; L364F

PubMed Link: 34690920

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 1

View BVdb publication page

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Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine

Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J

Publication Date: 2021-10

Variant appearance in text: AD1: 1090C>T

PubMed Link: 34498425

Variant Present in the following documents:

• MGG3-9-e1800.pdf

View BVdb publication page

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Genetic testing and clinical relevance of patients with thoracic aortic aneurysm and dissection in northwestern China.

Molecular Genetics & Genomic Medicine

Li, Jinjie J; Yang, Liu L; Diao, Yanjun Y; Zhou, Lei L; Xin, Yijuan Y; Jiang, Liqing L; Li, Rui R; Wang, Juan J; Duan, Weixun W; Liu, Jiayun J

Publication Date: 2021-10

Variant appearance in text: AD1: 1090C>T

PubMed Link: 34498425

Variant Present in the following documents:

• MGG3-9-e1800.pdf

View BVdb publication page

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Genome sequencing for early-onset or atypical dementia: high diagnostic yield and frequent observation of multiple contributory alleles.

Cold Spring Harbor Molecular Case Studies

Cochran, J Nicholas JN; McKinley, Emily C EC; Cochran, Meagan M; Amaral, Michelle D MD; Moyers, Bryan A BA; Lasseigne, Brittany N BN; Gray, David E DE; Lawlor, James M J JMJ; Prokop, Jeremy W JW; Geier, Ethan G EG; Holt, James M JM; Thompson, Michelle L ML; Newberry, J Scott JS; Yokoyama, Jennifer S JS; Worthey, Elizabeth A EA; Geldmacher, David S DS; Love, Marissa Natelson MN; Cooper, Gregory M GM; Myers, Richard M RM; Roberson, Erik D ED

Publication Date: 2019-12

Variant appearance in text: APP: 1090C>T; Leu364Phe; rs749453173

PubMed Link: 31836585

Variant Present in the following documents:

• Main text
• supp_mcs.a003491_Supplemental_Table_1.xlsx, sheet 1
• MCS003491Coc.pdf

View BVdb publication page

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