Publications:

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: ART1: R102H

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Whole-exome sequencing identified a novel heterozygous mutation of SALL1 and a new homozygous mutation of PTPRQ in a Chinese family with Townes-Brocks syndrome and hearing loss.

Bmc Medical Genomics

Yang, Guangxian G; Yin, Yi Y; Tan, Zhiping Z; Liu, Jian J; Deng, Xicheng X; Yang, Yifeng Y

Publication Date: 2021-01-21

Variant appearance in text: rs2280133

PubMed Link: 33478437

Variant Present in the following documents:

• 12920_2021_871_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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A family with hypothyroidism caused by fatty acid synthase and apolipoprotein B receptor mutations.

Molecular Medicine Reports

Sun, Jianhua J; Sun, Lizhi L; Chen, Weijie W; Yin, Xiao X; Lu, Yong Y; Jiang, Qiang Q

Publication Date: 2018-12

Variant appearance in text: rs2280133

PubMed Link: 30272292

Variant Present in the following documents:

• Main text
• mmr-18-06-4904.pdf

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: ART1: R102H; rs2280133

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 9

View BVdb publication page

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Genetic Variants Identified from Epilepsy of Unknown Etiology in Chinese Children by Targeted Exome Sequencing.

Scientific Reports

Wang, Yimin Y; Du, Xiaonan X; Bin, Rao R; Yu, Shanshan S; Xia, Zhezhi Z; Zheng, Guo G; Zhong, Jianmin J; Zhang, Yunjian Y; Jiang, Yong-Hui YH; Wang, Yi Y

Publication Date: 2017-01-11

Variant appearance in text: ART1: Arg102His; rs2280133

PubMed Link: 28074849

Variant Present in the following documents:

• srep40319-s4.xls, sheet 1

View BVdb publication page

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A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Immunity & Ageing : I & A

Villa, Francesco F; Maciąg, Anna A; Spinelli, Chiara C CC; Ferrario, Anna A; Carrizzo, Albino A; Parisi, Attilio A; Torella, Annalaura A; Montenero, Chiara C; Condorelli, Gianluigi G; Vecchione, Carmine C; Nigro, Vincenzo V; Montenero, Annibale S AS; Puca, Annibale A AA

Publication Date: 2014

Variant appearance in text: ART1: R102H; rs2280133

PubMed Link: 25469153

Variant Present in the following documents:

• 12979_2014_19_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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