Varaico: Literature-Extracted Genetic Variants

Gene:CLN5
Variant:p.A163T
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CLN5

NM_006493.4:p.A163T

Associated Papers

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

Paiva ARB et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2023

Neuronal Ceroid Lipofuscinosis: Clinical and Laboratory Profile in Children from Tertiary Care Centre in South India.

Gowda VK et al.

Journal of Pediatric Genetics, 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."