Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.N143S
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CLN5

NM_006493.4:p.N143S

Associated Papers

Phenotypic/Genotypic Profile of Children with Neuronal Ceroid Lipofuscinosis in Southern Brazil.

Santos BV et al.

Neuropediatrics, 2024

Ceroid lipofuscinosis type 5: novel pathogenic variants and unexpected phenotypic findings.

Paiva ARB et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

A lysosomal enigma CLN5 and its significance in understanding neuronal ceroid lipofuscinosis.

Basak I et al.

Cellular and Molecular Life Sciences : Cmls, 2021

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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."