Use of whole-genome sequencing for mitochondrial disease diagnosis
Background and Objectives Mitochondrial diseases (MDs) are the commonest group of
heritable metabolic disorders. Phenotypic diversity can make molecular diagnosis …
heritable metabolic disorders. Phenotypic diversity can make molecular diagnosis …
Introme accurately predicts the impact of coding and noncoding variants on gene splicing, with clinical applications
Predicting the impact of coding and noncoding variants on splicing is challenging,
particularly in non-canonical splice sites, leading to missed diagnoses in patients. Existing …
particularly in non-canonical splice sites, leading to missed diagnoses in patients. Existing …
A rare homozygous mutation in the YARS2 gene presents with hypertrophic cardiomyopathy, lactic acidosis and anemia in a Chinese infant
D Xiang, K Xu, M Chen, Z Zhang, N Sun, Y Qi, J Lu… - Gene, 2024 - Elsevier
Results Genetic testing revealed a homozygous missense mutation (c. 156C> G; p.
Phe52Leu) in the YARS2 gene, which were inherited from her healthy parents respectively …
Phe52Leu) in the YARS2 gene, which were inherited from her healthy parents respectively …