Associated Papers
Diagnostic Utility of Exome Data Reanalysis After In Silico Multi-Gene Panels or Clinical Exome Testing for Patients With Epilepsy and Developmental Delay/Intellectual Disability: A Retrospective Cohort Study.
Cuillerier A et al.
Clinical Genetics, 2026
Structure and Function of the Glycosylphosphatidylinositol Transamidase, a Transmembrane Complex Catalyzing GPI Anchoring of Proteins.
Li D
Sub-cellular Biochemistry, 2024
[Glycosylphosphatidylinositol biosynthesis deficiency 15 caused by GPAA1 gene mutation: a rare disease study].
Chen QR et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2023
A Novel Homozygous GPAA1 Variant in a Patient with a Glycosylphosphatidylinositol Biosynthesis Defect.
Fontana P et al.
Genes, 2023
Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.
Castle AMR et al.
Neurology. Genetics, 2021
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