Varaico: Literature-Extracted Genetic Variants

Gene:EBF3
Variant:p.S162Splc
Back to variants list

EBF3

NM_001375380.1:p.S162Splc

Associated Papers

Urologic manifestations of hypotonia, ataxia, and delayed development syndrome (HADDS), a rare neurodevelopmental disorder.

Batie SF et al.

Journal of Pediatric Urology, 2023

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."