Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.T7fs
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CTNS

NM_004937.3:p.T7fs

Associated Papers

Hematopoietic Stem-Cell Gene Therapy for Cystinosis.

Barshop BA et al.

The New England Journal of Medicine, 2026

CTNS Mutations Causing Autosomal Recessive Cystinosis in a Subset of Iranian Population: Report of Two New Variants.

Mohammadi Chermahini Z et al.

Advanced Biomedical Research, 2024

Cystinosis: Status of research and treatment in India and the world.

Vashist N et al.

Journal of Biosciences, 2023

Nephropathic cystinosis in Poland: a 40-year retrospective study.

Sikora P et al.

Polish Archives of Internal Medicine, 2022

Newborn Screening: Review of its Impact for Cystinosis.

Hohenfellner K et al.

Cells, 2022

Genetic Landscape of Nephropathic Cystinosis in Russian Children.

Savostyanov KV et al.

Frontiers in Genetics, 2022

A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.

Najafi M et al.

Frontiers in Pediatrics, 2019

The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.

Topaloglu R et al.

Clinical Journal of the American Society of Nephrology : Cjasn, 2017

Genotypic and phenotypic features of the cystinosis patients from the South Eastern part of Turkey.

Önenli-Mungan N et al.

The Turkish Journal of Pediatrics, 2016

CTNS mutations in publicly-available human cystinosis cell lines.

Zykovich A et al.

Molecular Genetics and Metabolism Reports, 2015

CTNS molecular genetics profile in a Persian nephropathic cystinosis population.

Ghazi F et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0

Phenotypic variability in cystinosis: Lessons from an atypical case.

Toso D et al.

Nefrologia, 0

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