Publications:

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Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: SMARCA4: 1237C>T; Q413*

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: SMARCA4: 1237C>T; Q413*

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications

Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL

Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: Q413*

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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An In-Depth Look at Small Cell Carcinoma of the Ovary, Hypercalcemic Type (SCCOHT): Clinical Implications from Recent Molecular Findings.

Journal Of Cancer

Lu, Bingjian B; Shi, Haiyan H

Publication Date: 2019

Variant appearance in text: SMARCA4: 1237C>T

PubMed Link: 30662543

Variant Present in the following documents:

• Main text
• jcav10p0223.pdf

View BVdb publication page

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SMARCA4 inactivating mutations cause concomitant Coffin-Siris syndrome, microphthalmia and small-cell carcinoma of the ovary hypercalcaemic type.

The Journal Of Pathology

Errichiello, Edoardo E; Mustafa, Noor N; Vetro, Annalisa A; Notarangelo, Lucia Dora LD; de Jonge, Hugo H; Rinaldi, Berardo B; Vergani, Debora D; Giglio, Sabrina Rita SR; Morbini, Patrizia P; Zuffardi, Orsetta O

Publication Date: 2017-09

Variant appearance in text: SMARCA4: 1237C>T; Gln413*

PubMed Link: 28608987

Variant Present in the following documents:

View BVdb publication page

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Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.

American Journal Of Human Genetics

Li, Airong A; Davila, Sonia S; Furu, Laszlo L; Qian, Qi Q; Tian, Xin X; Kamath, Patrick S PS; King, Bernard F BF; Torres, Vicente E VE; Somlo, Stefan S

Publication Date: 2003-03

Variant appearance in text: SMARCA4: Q413X

PubMed Link: 12529853

Variant Present in the following documents:

• Main text

View BVdb publication page

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