Varaico: Literature-Extracted Genetic Variants

Gene:EBF3
Variant:p.R63Q
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EBF3

NM_001375380.1:p.R63Q

Associated Papers

Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients.

Zhu J et al.

Frontiers in Pediatrics, 2023

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

Padhi EM et al.

Human Genomics, 2021

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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."