Varaico: Literature-Extracted Genetic Variants

Gene:DEAF1
Variant:p.W234C
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DEAF1

NM_021008.4:p.W234C

Associated Papers

The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.

Pang N et al.

Bmc Medicine, 2025

40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3

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 variants of DEAF1 cause intellectual disability in six Chinese patients.

Chen S et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

Neurological Diseases With Autism Spectrum Disorder: Role of ASD Risk Genes.

Xiong J et al.

Frontiers in Neuroscience, 2019

31031587 (PubMed )
Supplement: Table_1.XLSX › no_ASD_group
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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."