MECP2 c.455C>A ;(p.A152E)

Variant ID: X-153296860-G-T

NM_001110792.1(MECP2):c.455C>A;(p.A152E)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: rs28934908
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_8.xlsx, sheet 1
View BVdb publication page



The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Neul, Jeffrey L JL; Benke, Timothy A TA; Marsh, Eric D ED; Skinner, Steven A SA; Merritt, Jonathan J; Lieberman, David N DN; Standridge, Shannon S; Feyma, Timothy T; Heydemann, Peter P; Peters, Sarika S; Ryther, Robin R; Jones, Mary M; Suter, Bernhard B; Kaufmann, Walter E WE; Glaze, Daniel G DG; Percy, Alan K AK
Publication Date: 2019-01

Variant appearance in text: rs28934908
PubMed Link: 30536762
Variant Present in the following documents:
  • Main text
View BVdb publication page



Publication of nuclear magnetic resonance experimental data with semantic web technology and the application thereof to biomedical research of proteins.

Journal Of Biomedical Semantics
Yokochi, Masashi M; Kobayashi, Naohiro N; Ulrich, Eldon L EL; Kinjo, Akira R AR; Iwata, Takeshi T; Ioannidis, Yannis E YE; Livny, Miron M; Markley, John L JL; Nakamura, Haruki H; Kojima, Chojiro C; Fujiwara, Toshimichi T
Publication Date: 2016-05-05

Variant appearance in text: rs28934908
PubMed Link: 27927232
Variant Present in the following documents:
  • 13326_2016_57_MOESM1_ESM.pdf
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs28934908
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
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Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.

Human Mutation
Grozeva, Detelina D; Carss, Keren K; Spasic-Boskovic, Olivera O; Tejada, Maria-Isabel MI; Gecz, Jozef J; Shaw, Marie M; Corbett, Mark M; Haan, Eric E; Thompson, Elizabeth E; Friend, Kathryn K; Hussain, Zaamin Z; Hackett, Anna A; Field, Michael M; Renieri, Alessandra A; Stevenson, Roger R; Schwartz, Charles C; Floyd, James A B JA; Bentham, Jamie J; Cosgrove, Catherine C; Keavney, Bernard B; Bhattacharya, Shoumo S; , ; , ; , ; Hurles, Matthew M; Raymond, F Lucy FL
Publication Date: 2015-12

Variant appearance in text: rs28934908
PubMed Link: 26350204
Variant Present in the following documents:
  • HUMU-36-1197-s001.pdf
View BVdb publication page