MRPL52 c.*564G>A

Variant ID: 14-23304094-G-A

NM_180982.2(MRPL52):c.*564G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3751488
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



MMP-14 single-nucleotide polymorphisms are related to steroid-induced osteonecrosis of the femoral head in the population of northern China.

Molecular Genetics & Genomic Medicine
Qi, Yuxin Y; Wang, Jiaqi J; Sun, Mingqi M; Ma, Chao C; Jin, Tianbo T; Liu, Yuan Y; Cao, Yuju Y; Wang, Jianzhong J
Publication Date: 2019-02

Variant appearance in text: rs3751488
PubMed Link: 30548828
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs3751488
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: rs3751488
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
View BVdb publication page



Genetic variation in the matrix metalloproteinase genes and diabetic nephropathy in type 1 diabetes.

Molecular Genetics And Metabolism
Kure, Masahiko M; Pezzolesi, Marcus G MG; Poznik, G David GD; Katavetin, Pisut P; Skupien, Jan J; Dunn, Jonathon S JS; Mychaleckyj, Josyf C JC; Warram, James H JH; Krolewski, Andrzej S AS
Publication Date: 2011-05

Variant appearance in text: rs3751488
PubMed Link: 21277817
Variant Present in the following documents:
  • Main text
View BVdb publication page