Varaico: Literature-Extracted Genetic Variants

Gene:DEAF1
Variant:p.R261P
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DEAF1

NM_021008.4:p.R261P

Associated Papers

Genetic variants and phenotypic data curated for the CAGI6 intellectual disability panel challenge.

Aspromonte MC et al.

Human Genetics, 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

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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."