Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.Q145*
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CTNS

NM_004937.3:p.Q145*

Associated Papers

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

Genetic Landscape of Nephropathic Cystinosis in Russian Children.

Savostyanov KV et al.

Frontiers in Genetics, 2022

Molecular Basis of Cystinosis: Geographic Distribution, Functional Consequences of Mutations in the CTNS Gene, and Potential for Repair.

David D et al.

Nephron, 2019

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

Mutation analysis of the CTNS gene in Iranian patients with infantile nephropathic cystinosis: identification of two novel mutations.

Sadeghipour F et al.

Human Genome Variation, 2017

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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."