Varaico: Literature-Extracted Genetic Variants

Gene:STRADA
Variant:p.P297insFs
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STRADA

NM_001003787.4:p.P297insFs

Associated Papers

Electroclinical Features in Two Novel STRADA Patients and a Functional Yeast Assay for the Validation of Missense STRADA Mutations.

Ancora C et al.

Pediatric Neurology, 2023

Homozygous missense STRADA mutation in a patient with polyhydramnios, megalencephaly and symptomatic epilepsy syndrome.

Aerden M et al.

Clinical Dysmorphology, 2021

Multimodal Analysis of STRADA Function in Brain Development.

Dang LT et al.

Frontiers in Cellular Neuroscience, 2020

Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.

Evers C et al.

Molecular Genetics and Metabolism, 2017

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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."