MUC17 c.*126T>C

Variant ID: 7-100701451-T-C

NM_001040105.1(MUC17):c.*126T>C

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: rs4729655
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs4729655
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



MicroRNA-binding site polymorphisms and risk of colorectal cancer: A systematic review and meta-analysis.

Cancer Medicine
Gholami, Morteza M; Larijani, Bagher B; Sharifi, Farshad F; Hasani-Ranjbar, Shirin S; Taslimi, Reza R; Bastami, Milad M; Atlasi, Rasha R; Amoli, Mahsa M MM
Publication Date: 2019-12

Variant appearance in text: rs4729655
PubMed Link: 31637880
Variant Present in the following documents:
  • Main text
  • CAM4-8-7477.pdf
View BVdb publication page



Organoids as a new model for improving regenerative medicine and cancer personalized therapy in renal diseases.

Cell Death & Disease
Grassi, Ludovica L; Alfonsi, Romina R; Francescangeli, Federica F; Signore, Michele M; De Angelis, Maria Laura ML; Addario, Antonio A; Costantini, Manuela M; Flex, Elisabetta E; Ciolfi, Andrea A; Pizzi, Simone S; Bruselles, Alessandro A; Pallocca, Matteo M; Simone, Giuseppe G; Haoui, Mustapha M; Falchi, Mario M; Milella, Michele M; Sentinelli, Steno S; Di Matteo, Paola P; Stellacci, Emilia E; Gallucci, Michele M; Muto, Giovanni G; Tartaglia, Marco M; De Maria, Ruggero R; Bonci, Désirée D
Publication Date: 2019-02-27

Variant appearance in text: rs4729655
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 1
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: rs4729655
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs4729655
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Predictive and Prognostic Molecular Biomarkers for Response to Neoadjuvant Chemoradiation in Rectal Cancer.

International Journal Of Molecular Sciences
Dayde, Delphine D; Tanaka, Ichidai I; Jain, Rekha R; Tai, Mei Chee MC; Taguchi, Ayumu A
Publication Date: 2017-03-07

Variant appearance in text: rs4729655
PubMed Link: 28272347
Variant Present in the following documents:
  • Main text
  • ijms-18-00573.pdf
View BVdb publication page



Genome-wide association study identifies 8p21.3 associated with persistent hepatitis B virus infection among Chinese.

Nature Communications
Li, Yuanfeng Y; Si, Lanlan L; Zhai, Yun Y; Hu, Yanling Y; Hu, Zhibin Z; Bei, Jin-Xin JX; Xie, Bobo B; Ren, Qian Q; Cao, Pengbo P; Yang, Fei F; Song, Qingfeng Q; Bao, Zhiyu Z; Zhang, Haitao H; Han, Yuqing Y; Wang, Zhifu Z; Chen, Xi X; Xia, Xia X; Yan, Hongbo H; Wang, Rui R; Zhang, Ying Y; Gao, Chengming C; Meng, Jinfeng J; Tu, Xinyi X; Liang, Xinqiang X; Cui, Ying Y; Liu, Ying Y; Wu, Xiaopan X; Li, Zhuo Z; Wang, Huifen H; Li, Zhaoxia Z; Hu, Bo B; He, Minghui M; Gao, Zhibo Z; Xu, Xiaobing X; Ji, Hongzan H; Yu, Chaohui C; Sun, Yi Y; Xing, Baocai B; Yang, Xiaobo X; Zhang, Haiying H; Tan, Aihua A; Wu, Chunlei C; Jia, Weihua W; Li, Shengping S; Zeng, Yi-Xin YX; Shen, Hongbing H; He, Fuchu F; Mo, Zengnan Z; Zhang, Hongxing H; Zhou, Gangqiao G
Publication Date: 2016-05-31

Variant appearance in text: rs4729655
PubMed Link: 27244555
Variant Present in the following documents:
  • ncomms11664-s1.pdf
View BVdb publication page



Genetic variations of MUC17 are associated with endometriosis development and related infertility.

Bmc Medical Genetics
Yang, Ching-Wen CW; Chang, Cherry Yin-Yi CY; Lai, Ming-Tsung MT; Chang, Hui-Wen HW; Lu, Cheng-Chan CC; Chen, Yi Y; Chen, Chih-Mei CM; Lee, Shan-Chih SC; Tsai, Pei-Wen PW; Yang, Su-Han SH; Lin, Chih-Hung CH; Sheu, Jim Jinn-Chyuan JJ; Tsai, Fuu-Jen FJ
Publication Date: 2015-08-19

Variant appearance in text: rs4729655
PubMed Link: 26285705
Variant Present in the following documents:
  • Main text
  • 12881_2015_Article_209.pdf
View BVdb publication page