Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN4
Variant:p.L152R
Back to variants list

SPTBN4

NM_020971.3:p.L152R

Associated Papers

Evaluation of the etiology of epilepsy and/or developmental delay in children via next-generation sequencing: a single-center experience.

Kava H et al.

Frontiers in Pediatrics, 2025

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.

Akgun-Dogan O et al.

Frontiers in Genetics, 2024

38560291 (PubMed )
Supplement: Table2.XLSX › Sheet1
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."