Varaico: Literature-Extracted Genetic Variants

Gene:ESPNL
Variant:p.V8M
Back to variants list

ESPNL

NM_194312.4:p.V8M

Associated Papers

Interstitial cystitis: a phenotype and rare variant exome sequencing study.

Motelow JE et al.

Ebiomedicine, 2026

41713163 (PubMed )
Supplement: mmc1.pdf

Identification of a Novel FLNC Truncating Variant in Fetal Tetralogy of Fallot: A Case Report and Review of the Literature.

Zhang Z et al.

Diagnostics (basel, Switzerland), 2025

41464097 (PubMed )
Supplement: diagnostics-15-03097-s001.zip › Table_S2.xls › Genetic_Analysis_Variant_List
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."