Varaico: Literature-Extracted Genetic Variants

Gene:DEAF1
Variant:p.K216N
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DEAF1

NM_021008.4:p.K216N

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

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

De novo and biallelic DEAF1 variants cause a phenotypic spectrum.

Nabais Sá MJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."