Varaico: Literature-Extracted Genetic Variants

Gene:REEP6
Variant:p.V173Splc
Back to variants list

REEP6

NM_138393.4:p.V173Splc

Associated Papers

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

Lieviant JA et al.

European Journal of Human Genetics : Ejhg, 2025

40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1

Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes.

Tan TE et al.

Diagnostics (basel, Switzerland), 2023

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."