Varaico: Literature-Extracted Genetic Variants

Gene:PIGA
Variant:p.R81S
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PIGA

NM_002641.4:p.R81S

Associated Papers

GPI-anchoring disorders and the heart: Is cardiomyopathy an overlooked feature?

Bayat A et al.

Clinical Genetics, 2023

Customised targeted massively parallel sequencing enables more precise diagnosis of patients with epilepsy.

Atli EI et al.

Internal Medicine Journal, 2022

Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.

Bayat A et al.

Developmental Medicine and Child Neurology, 2022

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."