Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.E227V
Back to variants list

CTNS

NM_004937.3:p.E227V

Associated Papers

Case Report: Cystinosis in a Chinese Child With a Novel CTNS Pathogenic Variant.

Guan YJ et al.

Frontiers in Pediatrics, 2022

The diagnosis of cystinosis in patients reveals new CTNS gene mutations in the Chinese population.

Li XQ et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2019

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."