Varaico: Literature-Extracted Genetic Variants

Gene:EBF3
Variant:p.H157Y
Back to variants list

EBF3

NM_001375380.1:p.H157Y

Associated Papers

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

Ek M et al.

Frontiers in Neurology, 2023

37273706 (PubMed )
Supplement: Table_2.xlsx › Blad1

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

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

Padhi EM et al.

Human Genomics, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype
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."