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3 articles related to "Exon Deletion"

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Articles

Original Research

Published on 14 Jun 2023

Merosin-deficient congenital muscular dystrophy type 1a: detection of LAMA2 variants in Vietnamese patients

in Genetics of Common and Rare Diseases

Van Khanh Tran
Ngoc-Lan Nguyen
Lan Ngoc Thi Tran
Phuong Thi Le
Anh Hai Tran
Tuan L. A. Pham
Nguyen Thi Kim Lien
Nguyen Thi Xuan
Le Tat Thanh
Thanh Van Ta

Frontiers in Genetics

doi 10.3389/fgene.2023.1183663

4,983 views
3 citations

Original Research

Published on 02 Mar 2023

Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy

in Epilepsy

Hongwei Zhang
Jie Deng
Xiaohui Wang
Chunhong Chen
Shuhua Chen
Lifang Dai
Fang Fang

Frontiers in Neurology

doi 10.3389/fneur.2023.1113747

11,005 views
11 citations

Original Research

Published on 29 Nov 2021

Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene

in Pediatric Neurology

Xiaona Luo
Chunmei Wang
Longlong Lin
Fang Yuan
Simei Wang
Yilin Wang
Anqi Wang
Chao Wang
Shengnan Wu
Xiaoping Lan

Frontiers in Pediatrics

doi 10.3389/fped.2021.679342

4,542 views
11 citations