Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.R70C
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CLN8

NM_018941.4:p.R70C

Associated Papers

Neuroimaging to Genetics: Unraveling the Etiology of Cerebral Palsy in Children From Southern Brazil.

Do Valle DA et al.

Journal of Child Neurology, 2026

40534433 (PubMed )
Supplement: sj-pdf-1-jcn-10.1177_08830738251346918.pdf

Genetic spectrum of neuronal ceroid lipofuscinosis & its genotype-phenotype correlation -A single centre experience of 56 cases.

Thuppanattumadam Ananthasubramanian S et al.

Journal of the Neurological Sciences, 2025

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

Santos BV et al.

Neuropediatrics, 2024

Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.

Zhang Y et al.

Molecular Neurobiology, 2021

33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM8_ESM.xlsx › Validated_mutations
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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."