Varaico: Literature-Extracted Genetic Variants

Gene:DEAF1
Variant:p.K305del1
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DEAF1

NM_021008.4:p.K305del1

Associated Papers

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

Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

Chen L et al.

Human Mutation, 2017

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