Varaico: Literature-Extracted Genetic Variants

Gene:DEAF1
Variant:p.S221L
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DEAF1

NM_021008.4:p.S221L

Associated Papers

Sleep disturbances associated with DEAF1 pathogenic variants.

Guerreiro P et al.

Journal of Clinical Sleep Medicine : Jcsm : Official Publication of the American Academy of Sleep Medicine, 2025

Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders.

McGee SR et al.

Human Molecular Genetics, 2023

Vulto-van Silfhout-de Vries syndrome caused by de novo variants of DEAF1 gene: a case report and literature review.

Zhu H et al.

Frontiers in Neurology, 2023

A Unique Observation of a Patient with Vulto-van Silfhout-de Vries Syndrome.

Bodunova N et al.

Diagnostics (basel, Switzerland), 2022

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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."