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: ALK: R1575C; rs148351049

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine

Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z

Publication Date: 2022-11

Variant appearance in text: ALK: 4723C>T; R1575C

PubMed Link: 35586877

Variant Present in the following documents:

• CAM4-11-4070-s004.xlsx, sheet 1

View BVdb publication page

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Clinical Manifestations and Pathogenesis of Acute Necrotizing Encephalopathy: The Interface Between Systemic Infection and Neurologic Injury.

Frontiers In Neurology

Shukla, Priya P; Mandalla, Abby A; Elrick, Matthew J MJ; Venkatesan, Arun A

Publication Date: 2021

Variant appearance in text: ALK: R1575C

PubMed Link: 35058867

Variant Present in the following documents:

• fneur-12-628811.pdf

View BVdb publication page

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Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One

Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R

Publication Date: 2020

Variant appearance in text: ALK: 4723C>T

PubMed Link: 32639993

Variant Present in the following documents:

• pone.0235766.s008.xlsx, sheet 5

View BVdb publication page

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Genetic variation in human drug-related genes.

Genome Medicine

Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS

Publication Date: 2017-12-22

Variant appearance in text: rs148351049

PubMed Link: 29273096

Variant Present in the following documents:

• 13073_2017_502_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Integrating in silico prediction methods, molecular docking, and molecular dynamics simulation to predict the impact of ALK missense mutations in structural perspective.

Biomed Research International

Doss, C George Priya CG; Chakraborty, Chiranjib C; Chen, Luonan L; Zhu, Hailong H

Publication Date: 2014

Variant appearance in text: ALK: R1575C; rs148351049

PubMed Link: 25054154

Variant Present in the following documents:

View BVdb publication page

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