Varaico: Literature-Extracted Genetic Variants

Gene:NEDD4L
Variant:p.Y679H
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NEDD4L

NM_001144967.3:p.Y679H

Associated Papers

Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.

Liu J et al.

Molecular Genetics & Genomic Medicine, 2023

Admixed phenotype of NEDD4L associated periventricular nodular heterotopia: A case report.

Pecimonova M et al.

Medicine, 2021

Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly.

Stouffs K et al.

Frontiers in Genetics, 2020

Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures.

Elbracht M et al.

Molecular Genetics & Genomic Medicine, 2018

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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."