Varaico: Literature-Extracted Genetic Variants

Gene:STRADA
Variant:p.S264R
Back to variants list

STRADA

NM_001003787.4:p.S264R

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."