Varaico: Literature-Extracted Genetic Variants

Gene:DEAF1
Variant:p.R224Q
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DEAF1

NM_021008.4:p.R224Q

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

Major Causes of Conflicting Interpretations of Variant Pathogenicity in Rare Disease: A Systematic Analysis.

Lazareva TE et al.

Journal of Personalized Medicine, 2024

39202055 (PubMed )
Supplement: jpm-14-00864-s001.zip › jpm-3099412-supplementary › Supplementary_Table_S1.xlsx › SNP

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.

Husson T et al.

Translational Psychiatry, 2020

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."