Varaico: Literature-Extracted Genetic Variants

Gene:CTNS
Variant:p.D205del1
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CTNS

NM_004937.3:p.D205del1

Associated Papers

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Whole-exome sequencing revealed novel genetic alterations in patients with tetralogy of Fallot.

Pan Y et al.

Translational Pediatrics, 2023

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin.

Kalatzis V et al.

Human Molecular Genetics, 2004

CTNS mutations in patients with cystinosis.

Anikster Y et al.

Human Mutation, 1999

CTNS molecular genetics profile in a Persian nephropathic cystinosis population.

Ghazi F et al.

Nefrologia : Publicacion Oficial De La Sociedad Espanola Nefrologia, 0

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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."