Varaico: Literature-Extracted Genetic Variants

Gene:STRADA
Variant:p.D281insFs
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STRADA

NM_001003787.4:p.D281insFs

Associated Papers

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

Aerden M et al.

Clinical Dysmorphology, 2021

Two further cases of polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome, caused by a truncating variant in STRADA.

Alsaif HS et al.

American Journal of Medical Genetics. Part A, 2021

Multimodal Analysis of STRADA Function in Brain Development.

Dang LT et al.

Frontiers in Cellular Neuroscience, 2020

Novel Homozygous Deletion in STRADA Gene Associated With Polyhydramnios, Megalencephaly, and Epilepsy in 2 Siblings: Implications for Diagnosis and Treatment.

Nelson K et al.

Journal of Child Neurology, 2018

Whole exome sequencing identifies the first STRADA point mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE).

Bi W et al.

American Journal of Medical Genetics. Part A, 2016

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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."