Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.L97_Q98insFs
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CLN5

NM_006493.4:p.L97_Q98insFs

Associated Papers

Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.

Guelbert G et al.

Frontiers in Neurology, 2022

Neuronal ceroid lipofuscinosis and Bardet-Biedl syndrome in patient with retinitis pigmentosa.

Santotoribio JD et al.

Anales De Pediatria, 2021

Functional Analysis of a Novel CLN5 Mutation Identified in a Patient With Neuronal Ceroid Lipofuscinosis.

Luo S et al.

Frontiers in Genetics, 2020

Novel Mutations in CLN5 of Chinese Patients With Neuronal Ceroid Lipofuscinosis.

Ge L et al.

Journal of Child Neurology, 2018

The neuronal ceroid lipofuscinoses program: A translational research experience in Argentina.

Kohan R et al.

Biochimica Et Biophysica Acta, 2015

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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."