Publications:

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Identification of a rare missense mutation in GJB1 and prenatal diagnosis in a Chinese family with CMT: A case report.

Medicine

Huang, Xinyi X; Wu, Xiaoli X; Wu, Bei B; Mou, Jing J; Ma, Xingwei X

Publication Date: 2022-11-11

Variant appearance in text: GJB1: 123G>C

PubMed Link: 36397455

Variant Present in the following documents:

• Main text
• medi-101-e31733.pdf

View BVdb publication page

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New evidence for secondary axonal degeneration in demyelinating neuropathies.

Neuroscience Letters

Moss, Kathryn R KR; Bopp, Taylor S TS; Johnson, Anna E AE; Höke, Ahmet A

Publication Date: 2021-01-23

Variant appearance in text: GJB1: E41D

PubMed Link: 33359733

Variant Present in the following documents:

• Main text

View BVdb publication page

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A Targeted Gene Panel That Covers Coding, Non-coding and Short Tandem Repeat Regions Improves the Diagnosis of Patients With Neurodegenerative Diseases.

Frontiers In Neuroscience

Yu, Allen Chi-Shing AC; Yim, Aldrin Kay-Yuen AK; Chan, Anne Yin-Yan AY; Yuen, Liz Y P LYP; Au, Wing Chi WC; Cheng, Timothy H T THT; Lin, Xiao X; Li, Jing-Woei JW; Chan, Larry W L LWL; Mok, Vincent C T VCT; Chan, Ting-Fung TF; Chan, Ho Yin Edwin HYE

Publication Date: 2019

Variant appearance in text: GJB1: Glu41Asp

PubMed Link: 31920494

Variant Present in the following documents:

• Main text
• fnins-13-01324.pdf

View BVdb publication page

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MHC class II restricted neoantigen peptides predicted by clonal mutation analysis in lung adenocarcinoma patients: implications on prognostic immunological biomarker and vaccine design.

Bmc Genomics

Cai, Weijing W; Zhou, Dapeng D; Wu, Weibo W; Tan, Wen Ling WL; Wang, Jiaqian J; Zhou, Caicun C; Lou, Yanyan Y

Publication Date: 2018-08-03

Variant appearance in text: GJB1: E41D

PubMed Link: 30075702

Variant Present in the following documents:

• 12864_2018_4958_MOESM4_ESM.xlsx, sheet 1
• 12864_2018_4958_MOESM5_ESM.xlsx, sheet 1

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Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell

Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD

Publication Date: 2018-05-14

Variant appearance in text: GJB1: E41D

PubMed Link: 29657128

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: GJB1: E41D

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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