Varaico: Literature-Extracted Genetic Variants

Gene:EBF3
Variant:p.K64T
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EBF3

NM_001375380.1:p.K64T

Associated Papers

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.

Padhi EM et al.

Human Genomics, 2021

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

Tanaka AJ et al.

Cold Spring Harbor Molecular Case Studies, 2017

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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."