Publications:

Novel LRP6 Mutations Causing Non-Syndromic Oligodontia.

Journal Of Personalized Medicine

Lee, Yejin Y; Chae, Wonseon W; Kim, Youn Jung YJ; Kim, Jung-Wook JW

Publication Date: 2022-08-29

Variant appearance in text: LRP6: 1681C>T; Arg561*

PubMed Link: 36143186

Variant Present in the following documents:

• jpm-12-01401.pdf

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Rare phenotype: Hand preaxial polydactyly associated with LRP6-related tooth agenesis in humans.

Npj Genomic Medicine

Zhang, Liutao L; Yu, Miao M; Sun, Kai K; Fan, Zhuangzhuang Z; Liu, Haochen H; Feng, Hailan H; Liu, Yang Y; Han, Dong D

Publication Date: 2021-11-10

Variant appearance in text: LRP6: 1681C>T; Arg561*

PubMed Link: 34759310

Variant Present in the following documents:

• 41525_2021_262_MOESM1_ESM.pdf

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Investigation of a Novel LRP6 Variant Causing Autosomal-Dominant Tooth Agenesis.

Frontiers In Genetics

Huang, Yan-Xia YX; Gao, Chun-Yan CY; Zheng, Chun-Yan CY; Chen, Xu X; Yan, You-Sheng YS; Sun, Yong-Qing YQ; Dong, Xing-Yue XY; Yang, Kai K; Zhang, Dong-Liang DL

Publication Date: 2021

Variant appearance in text: LRP6: 1681C>T; R561*

PubMed Link: 34306029

Variant Present in the following documents:

• Main text
• fgene-12-688241.pdf

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Genomic analysis of oesophageal squamous-cell carcinoma identifies alcohol drinking-related mutation signature and genomic alterations.

Nature Communications

Chang, Jiang J; Tan, Wenle W; Ling, Zhiqiang Z; Xi, Ruibin R; Shao, Mingming M; Chen, Mengjie M; Luo, Yingying Y; Zhao, Yanjie Y; Liu, Yun Y; Huang, Xiancong X; Xia, Yuchao Y; Hu, Jinlin J; Parker, Joel S JS; Marron, David D; Cui, Qionghua Q; Peng, Linna L; Chu, Jiahui J; Li, Hongmin H; Du, Zhongli Z; Han, Yaling Y; Tan, Wen W; Liu, Zhihua Z; Zhan, Qimin Q; Li, Yun Y; Mao, Weimin W; Wu, Chen C; Lin, Dongxin D

Publication Date: 2017-05-26

Variant appearance in text: LRP6: Arg561*

PubMed Link: 28548104

Variant Present in the following documents:

• ncomms15290-s4.xlsx, sheet 1

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Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Nature Communications

Li, Yvonne Y YY; Chung, Grace T Y GT; Lui, Vivian W Y VW; To, Ka-Fai KF; Ma, Brigette B Y BB; Chow, Chit C; Woo, John K S JK; Yip, Kevin Y KY; Seo, Jeongsun J; Hui, Edwin P EP; Mak, Michael K F MK; Rusan, Maria M; Chau, Nicole G NG; Or, Yvonne Y Y YY; Law, Marcus H N MH; Law, Peggy P Y PP; Liu, Zoey W Y ZW; Ngan, Hoi-Lam HL; Hau, Pok-Man PM; Verhoeft, Krista R KR; Poon, Peony H Y PH; Yoo, Seong-Keun SK; Shin, Jong-Yeon JY; Lee, Sau-Dan SD; Lun, Samantha W M SW; Jia, Lin L; Chan, Anthony W H AW; Chan, Jason Y K JY; Lai, Paul B S PB; Fung, Choi-Yi CY; Hung, Suet-Ting ST; Wang, Lin L; Chang, Ann Margaret V AM; Chiosea, Simion I SI; Hedberg, Matthew L ML; Tsao, Sai-Wah SW; van Hasselt, Andrew C AC; Chan, Anthony T C AT; Grandis, Jennifer R JR; Hammerman, Peter S PS; Lo, Kwok-Wai KW

Publication Date: 2017-01-18

Variant appearance in text: LRP6: R561*

PubMed Link: 28098136

Variant Present in the following documents:

• ncomms14121-s5.xlsx, sheet 1

View BVdb publication page