Varaico: Literature-Extracted Genetic Variants

Gene:PTPN23
Variant:p.P1258fs
Back to variants list

PTPN23

NM_015466.4:p.P1258fs

Associated Papers

Clinician-Driven Reanalysis of Exome Sequencing Data From Patients With Inherited Retinal Diseases.

Surl D et al.

Jama Network Open, 2024

Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy.

Seo Y et al.

Frontiers in Neurology, 2022

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."