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3 articles related to "Exon Intron Boundary"

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Articles

Case Report

Published on 17 Nov 2023

A novel homozygous splice donor variant in the LRPPRC gene causing Leigh syndrome with epilepsy, a French-Canadian disorder in a Saudi family: case report

in Genetics of Common and Rare Diseases

Osama Y. Muthaffar
Angham Abdulrhman Abdulkareem
Abrar Ashi
Muhammad Imran Naseer

Frontiers in Pediatrics

doi 10.3389/fped.2023.1288542

2,845 views
4 citations

Original Research

Published on 17 Apr 2025

Identification of an elusive SERPING1 deletion in a family with hereditary angioedema type I utilizing soft clipping

in Allergy Diagnosis

Keith Wetherby
Joseph Chiao
Emily Faulkner
Yongjian Guo
Shaobin Hou
J. Joanna Yu
Jinguo Chen
Lili Wan
H. Henry Li

Frontiers in Allergy

doi 10.3389/falgy.2025.1565283

2,409 views
1 citation

Case Report

Published on 18 Jan 2024

Biallelic variants in HTRA2 cause 3-methylglutaconic aciduria mitochondrial disorder: case report and literature review

in Human and Medical Genomics

Umamaheswaran Gurusamy
Swetha Ramadesikan
Mohammad Marhabaie
Caitlyn M. Colwell
Jesse M. Hunter
Marco L. Leung
Elaine R. Mardis
Peter White
Murugu Manickam
Richard K. Wilson

Frontiers in Genetics

doi 10.3389/fgene.2023.1298574

3,632 views
2 citations