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4 articles related to "Silent Mutation"

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Articles

Original Research

Published on 10 Jan 2023

Novel homozygous silent mutation of ITGB3 gene caused Glanzmann thrombasthenia

in Genetics of Common and Rare Diseases

Zhengrong Wang
Yuqing Xu
Yixi Sun
Shuang Wang
Minyue Dong

Frontiers in Pediatrics

doi 10.3389/fped.2022.1062900

4,591 views
5 citations

Case Report

Published on 11 Sep 2019

A Novel Silent Mutation in the L1CAM Gene Causing Fetal Hydrocephalus Detected by Whole-Exome Sequencing

in Genetics of Common and Rare Diseases

Yixi Sun
Yanfeng Li
Min Chen
Yuqin Luo
Yeqing Qian
Yanmei Yang
Hong Lu
Fenlan Lou
Minyue Dong

Frontiers in Genetics

doi 10.3389/fgene.2019.00817

7,598 views
18 citations

Case Report

Published on 21 Sep 2016

A Novel CCM2 Gene Mutation Associated with Familial Cerebral Cavernous Malformation

in Neuroinflammation and Neuropathy

Wen-Qing Huang
Cong-Xia Lu
Ya Zhang
Ke-Hui Yi
Liang-Liang Cai
Ming-Li Li
Han Wang
Qing Lin
Chi-Meng Tzeng

Frontiers in Aging Neuroscience

doi 10.3389/fnagi.2016.00220

7,415 views
10 citations

Original Research

Published on 02 Nov 2015

Measles Virus Epitope Presentation by HLA: Novel Insights into Epitope Selection, Dominance, and Microvariation

in Microbial Immunology

Ingrid M. Schellens
Hugo D. Meiring
Ilka Hoof
Sanne N. Spijkers
Martien C. M. Poelen
Jacqueline A. M. van Gaans-van den Brink
Ana I. Costa
Harry Vennema
Can Keşmir
Debbie van Baarle

Frontiers in Immunology

doi 10.3389/fimmu.2015.00546

7,916 views
28 citations