Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.R110_A111delFs
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SPRED1

NM_152594.3:p.R110_A111delFs

Associated Papers

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

Chelleri C et al.

American Journal of Medical Genetics. Part A, 2024

Epilepsy in Legius syndrome: Coincidence or causation?

Medina Lemus A et al.

American Journal of Medical Genetics. Part A, 2024

RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome.

Romanisio G et al.

Molecular Genetics & Genomic Medicine, 2021

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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."