MUC16 c.40754C>T ;(p.T13585I)

Variant ID: 19-8999421-G-A

NM_024690.2(MUC16):c.40754C>T;(p.T13585I)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Liquid Biopsies from Pleural Effusions and Plasma from Patients with Malignant Pleural Mesothelioma: A Feasibility Study.

Cancers
Moretti, Gabriele G; Aretini, Paolo P; Lessi, Francesca F; Mazzanti, Chiara Maria CM; Ak, Guntulu G; Metintaş, Muzaffer M; Lando, Cecilia C; Filiberti, Rosa Angela RA; Lucchi, Marco M; Bonotti, Alessandra A; Foddis, Rudy R; Cristaudo, Alfonso A; Bottari, Andrea A; Apollo, Alessandro A; Del Re, Marzia M; Danesi, Romano R; Mutti, Luciano L; Gemignani, Federica F; Landi, Stefano S
Publication Date: 2021-05-18

Variant appearance in text: rs75266616
PubMed Link: 34070018
Variant Present in the following documents:
  • Main text
View BVdb publication page



Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Bmc Medical Genetics
Zhou, Yingjie Y; Tariq, Muhammad M; He, Sijie S; Abdullah, Uzma U; Zhang, Jianguo J; Baig, Shahid Mahmood SM
Publication Date: 2020-07-18

Variant appearance in text: rs75266616
PubMed Link: 32682410
Variant Present in the following documents:
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 6
  • 12881_2020_1087_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Novel NOG (p.P42S) mutation causes proximal symphalangism in a four-generation Chinese family.

Bmc Medical Genetics
Sha, Yanwei Y; Ma, Ding D; Zhang, Ning N; Wei, Xiaoli X; Liu, Wensheng W; Wang, Xiong X
Publication Date: 2019-08-01

Variant appearance in text: MUC16: T13585I
PubMed Link: 31370824
Variant Present in the following documents:
  • 12881_2019_864_MOESM2_ESM.xlsx, sheet 1
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: rs75266616
PubMed Link: 30814510
Variant Present in the following documents:
  • 41419_2019_1453_MOESM27_ESM.xlsx, sheet 2
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: rs75266616
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page