Repository of Research and Investigative Information
Shahid Sadoughi University of Medical Sciences
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(2022) Autosomal recessive cutis laxa type 1C with a homozygous LTBP4 splicing variant: a case report and update of literature. Molecular Biology Reports. pp. 4135-4140.
(2022) Case Report: Mutation in AIMP2/P38, the Scaffold for the Multi-Trna Synthetase Complex, and Association With Progressive Neurodevelopmental Disorders. Frontiers in Genetics.